ClinVar Miner

List of variants in gene POLD1 reported as uncertain significance for colorectal neoplasm

Included ClinVar conditions (84):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_002691.4(POLD1):c.883G>A (p.Val295Met) rs199545019 0.00060
NM_002691.4(POLD1):c.961G>A (p.Gly321Ser) rs41554817 0.00029
NM_002691.4(POLD1):c.371T>C (p.Val124Ala) rs199993010 0.00013
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.1562G>A (p.Arg521Gln) rs143076166 0.00006
NM_002691.4(POLD1):c.17G>A (p.Arg6Gln) rs778275831 0.00006
NM_002691.4(POLD1):c.1138-3C>T rs200072694 0.00002
NM_002691.4(POLD1):c.2045G>A (p.Arg682Gln) rs773665739 0.00002
NM_002691.4(POLD1):c.3136G>T (p.Ala1046Ser) rs751088347 0.00002
NM_002691.4(POLD1):c.3157C>T (p.Arg1053Cys) rs779208942 0.00002
NM_002691.4(POLD1):c.3035G>A (p.Cys1012Tyr) rs1057519693 0.00001
NM_002691.4(POLD1):c.46A>G (p.Lys16Glu) rs765185645 0.00001
NM_002691.4(POLD1):c.674G>A (p.Arg225His) rs144979965 0.00001
NM_002691.4(POLD1):c.-1-12C>T rs778338383
NM_002691.4(POLD1):c.1109G>T (p.Ser370Ile) rs868850526
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.2449C>G (p.Arg817Gly) rs148176230
NM_002691.4(POLD1):c.2874G>A (p.Leu958=) rs1568639764
NM_002691.4(POLD1):c.3041G>A (p.Gly1014Asp) rs1057519694
NM_002691.4(POLD1):c.3293G>T (p.Arg1098Leu) rs878854552

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