ClinVar Miner

List of variants in gene POLD1 reported as uncertain significance by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_002691.4(POLD1):c.2052G>C (p.Gln684His) rs144143245 0.00045
NM_002691.4(POLD1):c.1696G>A (p.Glu566Lys) rs372429157 0.00006
NM_002691.4(POLD1):c.2326C>T (p.Arg776Trp) rs780138978 0.00006
NM_002691.4(POLD1):c.1157G>A (p.Arg386His) rs764023083 0.00003
NM_002691.4(POLD1):c.1552C>A (p.Leu518Met) rs149043082 0.00003
NM_002691.4(POLD1):c.1955G>A (p.Arg652Gln) rs778037523 0.00003
NM_002691.4(POLD1):c.2954G>C (p.Arg985Pro) rs749159160 0.00003
NM_002691.4(POLD1):c.758+5G>A rs760003191 0.00003
NM_002691.4(POLD1):c.1517G>A (p.Arg506His) rs140379348 0.00002
NM_002691.4(POLD1):c.1573C>T (p.Arg525Trp) rs201804732 0.00001
NM_002691.4(POLD1):c.203G>A (p.Gly68Glu) rs144707871 0.00001
NM_002691.4(POLD1):c.868G>A (p.Val290Met) rs748657880 0.00001
NM_002691.4(POLD1):c.1240A>G (p.Lys414Glu) rs1555790592
NM_002691.4(POLD1):c.1735G>A (p.Glu579Lys) rs1354117345
NM_002691.4(POLD1):c.2154+2T>C rs1555792026
NM_002691.4(POLD1):c.2797G>T (p.Val933Leu) rs764785216
NM_002691.4(POLD1):c.2824C>G (p.Pro942Ala) rs1203736050
NM_002691.4(POLD1):c.3023G>A (p.Arg1008His) rs763747258
NM_002691.4(POLD1):c.487G>T (p.Asp163Tyr) rs753299061
NM_002691.4(POLD1):c.632G>A (p.Arg211His) rs373192520

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