ClinVar Miner

List of variants studied for hereditary skeletal muscle disorder by Genomics, Clalit Research Institute, Clalit Health Care

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_002495.4(NDUFS4):c.355G>C (p.Asp119His) rs747359752 0.00001
NM_001267550.2(TTN):c.98923C>T (p.Gln32975Ter)
NM_003283.6(TNNT1):c.607_610delinsTAGTGCTGT (p.Leu203_Arg204delinsTer)

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