ClinVar Miner

List of variants studied for hereditary skeletal muscle disorder by Inheritance Genetic Center

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_024301.5(FKRP):c.898G>A (p.Val300Met) rs563033008 0.00031
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000070.3(CAPN3):c.668A>C (p.Asn223Thr)
NM_001267550.2(TTN):c.29446G>T (p.Gly9816Ter)
NM_001458.5(FLNC):c.5185C>T (p.Pro1729Ser)

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