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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr7
73969541
A
G
missense_variant
MODERATE
GTF2IRD1
c.2050A>G
chr7
73952628
G
A
intron_variant
MODIFIER
GTF2IRD1
c.1543+125G>A
chr7
73950636
G
A
intron_variant
MODIFIER
GTF2IRD1
c.1505+31G>A
chr7
73950398
G
C
intron_variant
MODIFIER
GTF2IRD1
c.1397-99G>C
chr7
73949411
T
C
intron_variant
MODIFIER
GTF2IRD1
c.1371-32T>C
chr7
73944185
T
C
synonymous_variant
LOW
GTF2IRD1
c.1308T>C
chr7
73944095
C
T
synonymous_variant
LOW
GTF2IRD1
c.1218C>T
chr7
73932683
T
C
intron_variant
MODIFIER
GTF2IRD1
c.701+31T>C
chr7
73932560
A
G
synonymous_variant
LOW
GTF2IRD1
c.609A>G
chr7
73922613
T
C
intron_variant
MODIFIER
GTF2IRD1
c.123+80T>C
chr7
73814749
G
C
missense_variant
MODERATE
CLIP2
c.2930G>C
chr7
73814702
C
A
missense_variant&splice_region_variant
MODERATE
CLIP2
c.2883C>A
chr7
73803644
T
A
intron_variant
MODIFIER
CLIP2
c.2720+55T>A
chr7
73800711
C
T
intron_variant
MODIFIER
CLIP2
c.2480-140C>T
chr7
73791257
G
A
intron_variant
MODIFIER
CLIP2
c.2421+105G>A
chr7
73753250
T
C
synonymous_variant
LOW
CLIP2
c.594T>C
chr7
73752699
C
T
intron_variant
MODIFIER
CLIP2
c.122-79C>T
chr7
73752647
G
C
intron_variant
MODIFIER
CLIP2
c.122-131G>C
chr7
73732042
G
C
intron_variant
MODIFIER
CLIP2
c.121+45G>C
chr7
73530046
A
G
intron_variant
MODIFIER
LIMK1
c.1411-86A>G