ClinVar Miner

List of variants studied for hereditary skeletal muscle disorder by UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill

Included ClinVar conditions (591):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs11394094 0.00159
NM_005476.7(GNE):c.1892C>T (p.Ala631Val) rs62541771 0.00011
NM_018684.4(ZC4H2):c.246A>C (p.Gln82His) rs778806442 0.00001
NM_004393.6(DAG1):c.2194C>A (p.Pro732Thr) rs1406481422

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