Disease: Congenital muscular dystrophy (disorder)
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs80338800
LOC105370794 ; CAPN3
0.827 0.120 15 42387803 frameshift variant A/- delins 21
rs746361190
CNTNAP1
0.882 0.120 17 42691905 missense variant C/A snv 4.0E-06 4
rs1057518970
RYR1
1.000 0.120 19 38448398 missense variant C/T snv 8.0E-06 2.1E-05 3
rs774919231
RYR1
1.000 0.120 19 38451827 stop gained G/A;T snv 8.0E-06 3