ClinVar Miner

List of variants in gene POLH reported as pathogenic for not provided

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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_006502.3(POLH):c.2074A>G (p.Thr692Ala) rs199562456 0.00006
NM_006502.3(POLH):c.1066C>T (p.Arg356Ter) rs559497462 0.00003
NM_006502.3(POLH):c.1078dup (p.Asp360fs) rs1277794845 0.00003
NM_006502.3(POLH):c.149dup (p.Ser51fs) rs752080248 0.00002
NM_006502.3(POLH):c.490G>T (p.Glu164Ter) rs767433001 0.00002
NM_006502.3(POLH):c.672_673insT (p.Leu225fs) rs772778835 0.00002
NM_006502.3(POLH):c.-4-1G>C rs1461960812 0.00001
NM_006502.3(POLH):c.207del (p.Lys70fs) rs1176350430 0.00001
NM_006502.3(POLH):c.725C>G (p.Ser242Ter) rs745778317 0.00001
NM_006502.3(POLH):c.764+1G>A rs772570523 0.00001
NM_006502.3(POLH):c.890G>A (p.Trp297Ter) rs1767079240 0.00001
NM_006502.3(POLH):c.907C>T (p.Arg303Ter) rs759607901 0.00001
NC_000006.11:g.(?_43554989)_(43555246_?)del
NC_000006.11:g.(?_43565413)_(43568848_?)del
NC_000006.11:g.(?_43568705)_(43568848_?)del
NC_000006.11:g.(?_43571609)_(43573076_?)del
NC_000006.11:g.(?_43578271)_(43578480_?)del
NC_000006.11:g.(?_43581377)_(43582294_?)del
NM_006502.3(POLH):c.1007del (p.Gln336fs)
NM_006502.3(POLH):c.1019G>A (p.Trp340Ter)
NM_006502.3(POLH):c.106_118del (p.Val36fs) rs2127773185
NM_006502.3(POLH):c.1117C>T (p.Gln373Ter) rs121908564
NM_006502.3(POLH):c.1195del (p.Ala399fs)
NM_006502.3(POLH):c.1222_1225del (p.Thr408fs)
NM_006502.3(POLH):c.1244+1G>A
NM_006502.3(POLH):c.1318_1322del (p.Ile440fs) rs1554141842
NM_006502.3(POLH):c.1615del (p.Leu538_Leu539insTer)
NM_006502.3(POLH):c.1657dup (p.Gln553fs)
NM_006502.3(POLH):c.1671G>A (p.Trp557Ter)
NM_006502.3(POLH):c.202dup (p.Ala68fs)
NM_006502.3(POLH):c.319del (p.Ala107fs)
NM_006502.3(POLH):c.353dup (p.Tyr118Ter)
NM_006502.3(POLH):c.376C>T (p.Gln126Ter) rs121908563
NM_006502.3(POLH):c.381_384del (p.Glu127fs)
NM_006502.3(POLH):c.388C>T (p.Gln130Ter)
NM_006502.3(POLH):c.437dup (p.Tyr146Ter)
NM_006502.3(POLH):c.499C>T (p.Arg167Ter)
NM_006502.3(POLH):c.54del (p.Phe18fs)
NM_006502.3(POLH):c.764+1G>C
NM_006502.3(POLH):c.838C>T (p.Gln280Ter)
NM_006502.3(POLH):c.897T>G (p.Tyr299Ter)
NM_006502.3(POLH):c.985dup (p.Thr329fs)

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