ClinVar Miner

List of variants in gene POLD1 reported as likely pathogenic

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Gene type:
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_002691.4(POLD1):c.1421T>C (p.Leu474Pro) rs587777627
NM_002691.4(POLD1):c.1433G>A (p.Ser478Asn) rs397514632
NM_002691.4(POLD1):c.3185A>G (p.Gln1062Arg) rs2039339156
NM_002691.4(POLD1):c.3214A>G (p.Thr1072Ala) rs2122509398
NM_002691.4(POLD1):c.3219C>G (p.Ser1073Arg) rs2122521078

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