ClinVar Miner

List of variants studied for hereditary skeletal muscle disorder by Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.1598G>A (p.Arg533His) rs144336148 0.00029
NM_000070.3(CAPN3):c.1063C>T (p.Arg355Trp) rs749099493 0.00001
NM_000540.3(RYR1):c.838C>T (p.Arg280Ter) rs1278804520 0.00001
NM_000252.3(MTM1):c.1558C>T (p.Arg520Ter) rs587783805
NM_000426.4(LAMA2):c.2749+1G>A rs759555791
NM_000540.2(RYR1):c.14970delG rs1568613962
NM_000540.3(RYR1):c.1209C>G (p.Ile403Met) rs118192116
NM_001100.4(ACTA1):c.289C>G (p.Arg97Gly)
NM_001164508.2(NEB):c.23378del (p.Met7793fs) rs1553603690
NM_001848.3(COL6A1):c.787G>T (p.Gly263Cys) rs1569517943
NM_004369.4(COL6A3):c.6309+1G>T rs886043919
NM_007126.5(VCP):c.283C>T (p.Arg95Cys) rs121909332

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