ClinVar Miner

List of variants in gene POLD1 reported as uncertain significance by Mendelics

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Total variants: 27
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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.1795G>A (p.Ala599Thr) rs149569984 0.00027
NM_002691.4(POLD1):c.521G>A (p.Arg174Gln) rs141976385 0.00011
NM_002691.4(POLD1):c.2987C>T (p.Thr996Met) rs918661445 0.00010
NM_002691.4(POLD1):c.2388+5G>A rs750085275 0.00009
NM_002691.4(POLD1):c.3271G>A (p.Asp1091Asn) rs946088822 0.00009
NM_002691.4(POLD1):c.3016G>A (p.Ala1006Thr) rs376197467 0.00003
NM_002691.4(POLD1):c.132G>A (p.Met44Ile) rs757575448 0.00002
NM_002691.4(POLD1):c.3157C>T (p.Arg1053Cys) rs779208942 0.00002
NM_002691.4(POLD1):c.1289A>G (p.Asn430Ser) rs546554950 0.00001
NM_002691.4(POLD1):c.224T>C (p.Ile75Thr) rs878854534 0.00001
NM_002691.4(POLD1):c.327G>C (p.Gln109His) rs750260438 0.00001
NM_002691.4(POLD1):c.565G>T (p.Ala189Ser) rs761846026 0.00001
NM_002691.4(POLD1):c.613G>A (p.Gly205Ser) rs914238978 0.00001
NM_002691.4(POLD1):c.674G>A (p.Arg225His) rs144979965 0.00001
NM_002691.4(POLD1):c.1109G>T (p.Ser370Ile) rs868850526
NM_002691.4(POLD1):c.1492C>T (p.Gln498Ter) rs1240526196
NM_002691.4(POLD1):c.1687-2A>G rs1568628299
NM_002691.4(POLD1):c.189G>T (p.Glu63Asp) rs776773005
NM_002691.4(POLD1):c.208G>T (p.Val70Phe) rs147911699
NM_002691.4(POLD1):c.230C>G (p.Pro77Arg) rs1555789213
NM_002691.4(POLD1):c.2449C>G (p.Arg817Gly) rs148176230
NM_002691.4(POLD1):c.278C>T (p.Pro93Leu) rs2122203287
NM_002691.4(POLD1):c.2874G>A (p.Leu958=) rs1568639764
NM_002691.4(POLD1):c.3073G>A (p.Val1025Met) rs1060501858
NM_002691.4(POLD1):c.3293G>T (p.Arg1098Leu) rs878854552
NM_002691.4(POLD1):c.536G>T (p.Gly179Val) rs1060501831

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