List of variants in gene POLE reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 32

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HGVS	dbSNP	gnomAD frequency
NM_006231.4(POLE):c.3851G>A (p.Arg1284Gln)	rs149462407	0.00068
NM_006231.4(POLE):c.3046G>A (p.Val1016Met)	rs147692158	0.00065
NM_006231.4(POLE):c.2683G>A (p.Ala895Thr)	rs201115064	0.00024
NM_006231.4(POLE):c.3862G>A (p.Ala1288Thr)	rs200398117	0.00016
NM_006231.4(POLE):c.1559A>G (p.Gln520Arg)	rs780865223	0.00012
NM_006231.4(POLE):c.1738C>A (p.His580Asn)	rs371149234	0.00011
NM_006231.4(POLE):c.4169G>A (p.Arg1390His)	rs200776293	0.00011
NM_006231.4(POLE):c.5769C>T (p.Gly1923=)	rs375198950	0.00009
NM_006231.4(POLE):c.1288G>A (p.Ala430Thr)	rs140566004	0.00006
NM_006231.4(POLE):c.3459+8C>T	rs375852759	0.00006
NM_006231.4(POLE):c.6124G>A (p.Gly2042Arg)	rs147954675	0.00005
NM_006231.4(POLE):c.2053C>T (p.Arg685Trp)	rs116326665	0.00004
NM_006231.4(POLE):c.6012C>T (p.Ile2004=)	rs147806951	0.00004
NM_006231.4(POLE):c.6445C>T (p.Arg2149Cys)	rs771490182	0.00004
NM_006231.4(POLE):c.6508T>C (p.Cys2170Arg)	rs138094751	0.00004
NM_006231.4(POLE):c.4738C>T (p.Arg1580Trp)	rs192908615	0.00002
NM_006231.4(POLE):c.2377C>T (p.Arg793Cys)	rs376624527	0.00001
NM_006231.4(POLE):c.631A>T (p.Ile211Leu)	rs1064796126	0.00001
NM_006231.4(POLE):c.808G>A (p.Val270Met)	rs374237142	0.00001
NM_006231.4(POLE):c.1718G>A (p.Arg573Gln)	rs1054837169
NM_006231.4(POLE):c.2362G>A (p.Ala788Thr)	rs896350761
NM_006231.4(POLE):c.2485A>G (p.Met829Val)	rs762395135
NM_006231.4(POLE):c.286-8_286-7del	rs2043139110
NM_006231.4(POLE):c.3748C>T (p.Pro1250Ser)	rs769323549
NM_006231.4(POLE):c.407A>T (p.Lys136Ile)	rs752771738
NM_006231.4(POLE):c.4229A>C (p.His1410Pro)	rs1313711311
NM_006231.4(POLE):c.4549A>C (p.Thr1517Pro)	rs1161811592
NM_006231.4(POLE):c.4582G>T (p.Ala1528Ser)	rs373468985
NM_006231.4(POLE):c.4952+6C>G
NM_006231.4(POLE):c.6134C>G (p.Pro2045Arg)	rs1555220951
NM_006231.4(POLE):c.6442T>C (p.Cys2148Arg)	rs2041835652
NM_006231.4(POLE):c.6446G>A (p.Arg2149His)	rs201165149

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