ClinVar Miner

List of variants in gene POLD1 reported as uncertain significance for Colorectal cancer 10; Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome

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Total variants: 30
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HGVS dbSNP
NM_001256849.1(POLD1):c.1157G>A (p.Arg386His) rs764023083
NM_001256849.1(POLD1):c.1291A>G (p.Ile431Val) rs752444746
NM_001256849.1(POLD1):c.1294C>G (p.Arg432Gly) rs774130423
NM_001256849.1(POLD1):c.1322C>T (p.Thr441Met) rs376711125
NM_001256849.1(POLD1):c.1363G>A (p.Val455Met) rs762670703
NM_001256849.1(POLD1):c.1516C>T (p.Arg506Cys) rs528292347
NM_001256849.1(POLD1):c.1717G>T (p.Val573Leu) rs760616076
NM_001256849.1(POLD1):c.1867C>T (p.Arg623Trp) rs768773535
NM_001256849.1(POLD1):c.1930G>A (p.Asp644Asn) rs763465385
NM_001256849.1(POLD1):c.203G>A (p.Gly68Glu) rs144707871
NM_001256849.1(POLD1):c.208G>T (p.Val70Phe) rs147911699
NM_001256849.1(POLD1):c.2197C>G (p.Gln733Glu) rs1471359934
NM_001256849.1(POLD1):c.223A>G (p.Ile75Val) rs940296193
NM_001256849.1(POLD1):c.2290G>A (p.Gly764Ser) rs148838746
NM_001256849.1(POLD1):c.245C>T (p.Pro82Leu) rs201006221
NM_001256849.1(POLD1):c.2467C>T (p.Arg823Cys) rs376946722
NM_001256849.1(POLD1):c.2563C>T (p.Arg855Ter) rs768048535
NM_001256849.1(POLD1):c.2760C>G (p.Asp920Glu) rs1057521209
NM_001256849.1(POLD1):c.2861C>G (p.Thr954Arg) rs374016016
NM_001256849.1(POLD1):c.301A>T (p.Ile101Phe) rs140858857
NM_001256849.1(POLD1):c.3167C>T (p.Thr1056Met) rs772397517
NM_001256849.1(POLD1):c.3298G>A (p.Gly1100Arg) rs1060501837
NM_001256849.1(POLD1):c.343C>T (p.Pro115Ser) rs754917939
NM_001256849.1(POLD1):c.34G>A (p.Gly12Arg) rs772197667
NM_001256849.1(POLD1):c.353C>T (p.Ser118Phe) rs780604625
NM_001256849.1(POLD1):c.496C>T (p.Arg166Trp) rs376236497
NM_001256849.1(POLD1):c.652C>T (p.Arg218Cys) rs1295943468
NM_001256849.1(POLD1):c.713C>T (p.Thr238Met) rs553342844
NM_001256849.1(POLD1):c.866A>G (p.Asp289Gly) rs878854558
NM_001256849.1(POLD1):c.961G>A (p.Gly321Ser) rs41554817

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