ClinVar Miner

List of variants in gene POLD1 reported as uncertain significance by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_002691.4(POLD1):c.3257G>A (p.Arg1086Gln) rs3219457 0.00025
NM_002691.4(POLD1):c.301A>T (p.Ile101Phe) rs140858857 0.00006
NM_002691.4(POLD1):c.2972G>A (p.Cys991Tyr) rs775264944 0.00005
NM_002691.4(POLD1):c.1666G>A (p.Val556Ile) rs762273084 0.00002
NM_002691.4(POLD1):c.2250+5G>C rs772130395 0.00002
NM_002691.4(POLD1):c.1291A>G (p.Ile431Val) rs752444746 0.00001
NM_002691.4(POLD1):c.202+3A>G rs375365167 0.00001
NM_002691.4(POLD1):c.394G>A (p.Asp132Asn) rs781132734 0.00001
NM_002691.4(POLD1):c.1114G>A (p.Glu372Lys) rs960226186
NM_002691.4(POLD1):c.1226G>C (p.Arg409Pro) rs749611798
NM_002691.4(POLD1):c.2872C>G (p.Leu958Val)
NM_002691.4(POLD1):c.463+6T>G rs759315897
NM_002691.4(POLD1):c.574C>G (p.Leu192Val) rs374937343
NM_002691.4(POLD1):c.835_837del (p.Glu279del) rs746341854
NM_002691.4(POLD1):c.898_899delinsTT (p.Pro300Leu) rs1060501821

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