ClinVar Miner

List of variants in gene POPDC1 studied for hereditary skeletal muscle disorder

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001199563.2(POPDC1):c.708A>C (p.Thr236=) rs61995860 0.01354
NM_001199563.2(POPDC1):c.910G>A (p.Asp304Asn) rs147469762 0.00029
NM_001199563.2(POPDC1):c.574A>G (p.Asn192Asp) rs145098126 0.00016
NM_001199563.2(POPDC1):c.457C>T (p.Gln153Ter) rs1562137622
NM_001199563.2(POPDC1):c.471G>T (p.Lys157Asn)
NM_001199563.2(POPDC1):c.602C>T (p.Ser201Phe) rs869025337
NM_001199563.2(POPDC1):c.932G>A (p.Arg311Gln)

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