ClinVar Miner

List of variants in gene FANCI, POLG studied for congenital myopathy

Included ClinVar conditions (317):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.3105-11T>C rs2302084 0.32855
NM_002693.3(POLG):c.3708G>T (p.Gln1236His) rs3087374 0.06272
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) rs2307441 0.02704
NM_002693.3(POLG):c.3650C>T (p.Ala1217Val) rs199751339 0.00006
NM_002693.3(POLG):c.3667A>G (p.Ile1223Val) rs148786642 0.00004

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