ClinVar Miner

List of variants in gene POLD1 reported as likely benign for digestive system disorder

Included ClinVar conditions (605):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_002691.4(POLD1):c.1761C>T (p.Ile587=) rs3218755 0.00976
NM_002691.4(POLD1):c.2546G>A (p.Arg849His) rs3218775 0.00670
NM_002691.4(POLD1):c.433G>A (p.Ala145Thr) rs137953986 0.00253
NM_002691.4(POLD1):c.378C>T (p.Arg126=) rs145324823 0.00188
NM_002691.4(POLD1):c.2007-4G>A rs202035484 0.00135
NM_002691.4(POLD1):c.2103C>T (p.Tyr701=) rs201483538 0.00046
NM_002691.4(POLD1):c.3068-14C>T rs3218758 0.00041
NM_002691.4(POLD1):c.624G>A (p.Pro208=) rs78996304 0.00025
NM_002691.4(POLD1):c.1017G>T (p.Ser339=) rs373404887 0.00013
NM_002691.4(POLD1):c.1686+10C>T rs372652150 0.00008
NM_002691.4(POLD1):c.841-10A>G rs140160345 0.00003
NM_002691.4(POLD1):c.589A>C (p.Ser197Arg) rs1040524947 0.00002
NM_002691.4(POLD1):c.2820+12C>T rs567217817 0.00001
NM_002691.4(POLD1):c.3218+9_3218+10inv
NM_002691.4(POLD1):c.463+8_463+9delinsTT rs796285537

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