ClinVar Miner

List of variants in gene POLD1 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_002691.4(POLD1):c.961G>A (p.Gly321Ser) rs41554817 0.00029
NM_002691.4(POLD1):c.1040C>T (p.Pro347Leu) rs2230243 0.00004
NM_002691.4(POLD1):c.2470A>G (p.Met824Val) rs779675467 0.00003
NM_002691.4(POLD1):c.784G>A (p.Gly262Ser) rs571623032 0.00003
NM_002691.4(POLD1):c.2300C>T (p.Ser767Leu) rs556196668 0.00001
NM_002691.4(POLD1):c.273A>G (p.Thr91=) rs745850676 0.00001
NM_002691.4(POLD1):c.583C>T (p.Arg195Ter) rs377690809 0.00001
NM_002691.4(POLD1):c.2036A>T (p.Asp679Val)
NM_002691.4(POLD1):c.2428G>A (p.Ala810Thr) rs760358465
NM_002691.4(POLD1):c.2629G>A (p.Asp877Asn) rs1555793039
NM_002691.4(POLD1):c.474del (p.Glu159fs) rs752495905
NM_002691.4(POLD1):c.840+4C>T rs780257283

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