ClinVar Miner

List of variants studied for hereditary skeletal muscle disorder by Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University

Included ClinVar conditions (591):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_004320.6(ATP2A1):c.428G>A (p.Arg143Gln) rs750195772 0.00005
NM_170707.4(LMNA):c.1586C>T (p.Ala529Val) rs60580541

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