ClinVar Miner

List of variants studied for autosomal recessive distal myopathy by Genetic Diseases Diagnostic Center,Koc University Hospital

Included ClinVar conditions (10):
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.5711G>A (p.Gly1904Asp) rs1024524968
NM_003494.3(DYSF):c.2779del (p.Ala927Leufs) rs727503909
NM_005476.7(GNE):c.445G>T (p.Ala149Ser) rs1563946658

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