ClinVar Miner

List of variants studied for hereditary skeletal muscle disorder by Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001130987.2(DYSF):c.1615T>C (p.Cys539Arg) rs1573929182
NM_001927.4(DES):c.89_109del (p.Leu30_Pro36del)
NM_004281.4(BAG3):c.625C>G (p.Pro209Ala) rs1589630141
NM_152393.4(KLHL40):c.176G>C (p.Arg59Pro) rs778303947

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