ClinVar Miner

List of variants in gene DYSF reported as pathogenic for autosomal recessive distal myopathy

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_001130987.2(DYSF):c.1225C>T (p.Arg409Ter) rs758180890
NM_001130987.2(DYSF):c.1609G>A (p.Gly537Arg) rs121908962
NM_001130987.2(DYSF):c.1867C>T (p.Gln623Ter) rs121908953
NM_001130987.2(DYSF):c.1888C>T (p.Gln630Ter) rs746873768
NM_001130987.2(DYSF):c.203_204delinsAT (p.Val68Asp) rs121908957
NM_001130987.2(DYSF):c.2426C>G (p.Pro809Arg) rs121908956
NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp) rs202218890
NM_001130987.2(DYSF):c.3051G>T (p.Trp1017Cys) rs28937581
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His) rs121908958
NM_001130987.2(DYSF):c.3498_3499delinsAA (p.Tyr1166_Gly1167delinsTer) rs398123781
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val) rs121908954
NM_001130987.2(DYSF):c.5711del (p.Gly1904fs) rs786205081
NM_001130987.2(DYSF):c.5757del (p.Glu1920fs)
NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter) rs121908959
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys) rs121908955
NM_001130987.2(DYSF):c.991G>T (p.Gly331Trp) rs121908963
NM_003494.3(DYSF):c.2643+1G>A rs140108514

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