ClinVar Miner

List of variants reported as likely pathogenic for Miyoshi muscular dystrophy 1 by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_001130987.2(DYSF):c.1149+1G>A rs398123763
NM_001130987.2(DYSF):c.3028T>C (p.Trp1010Arg) rs750028300
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His) rs121908958

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