ClinVar Miner

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

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Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.2207A>G (p.Asn736Ser) rs138457939 0.00092
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) rs145843073 0.00063
NM_002693.3(POLG):c.3131T>C (p.Val1044Ala) rs150233690 0.00062
NM_002693.3(POLG):c.2021G>A (p.Gly674Asp) rs200257554 0.00017
NM_002693.3(POLG):c.3436C>T (p.Arg1146Cys) rs2307440 0.00014
NM_002693.3(POLG):c.2642C>T (p.Pro881Leu) rs375935084 0.00008
NM_002693.3(POLG):c.1904C>T (p.Pro635Leu) rs773994204 0.00007
NM_002693.3(POLG):c.2051A>G (p.Asn684Ser) rs202244328 0.00007
NM_002693.3(POLG):c.2218A>G (p.Asn740Asp) rs78347903 0.00006
NM_002693.3(POLG):c.2878C>T (p.Pro960Ser) rs373298169 0.00006
NM_002693.3(POLG):c.2487C>T (p.Pro829=) rs147563527 0.00004
NM_002693.3(POLG):c.1235C>T (p.Pro412Leu) rs587780420 0.00003
NM_002693.3(POLG):c.2146C>T (p.Pro716Ser) rs796052883 0.00003
NM_002693.3(POLG):c.2914C>T (p.Arg972Trp) rs762972003 0.00003
NM_002693.3(POLG):c.2939A>C (p.Glu980Ala) rs754202777 0.00003
NM_002693.3(POLG):c.3383G>A (p.Arg1128His) rs1405268319 0.00003
NM_002693.3(POLG):c.3445G>A (p.Ala1149Thr) rs879135314 0.00003
NM_002693.3(POLG):c.1735C>T (p.Arg579Trp) rs556925652 0.00002
NM_002693.3(POLG):c.2354G>A (p.Gly785Asp) rs149058889 0.00002
NM_002693.3(POLG):c.2597G>A (p.Arg866Gln) rs779723962 0.00002
NM_002693.3(POLG):c.3382C>T (p.Arg1128Cys) rs755544706 0.00002
NM_002693.3(POLG):c.1328G>A (p.Arg443His) rs796052903 0.00001
NM_002693.3(POLG):c.1655T>C (p.Leu552Pro) rs2055522665 0.00001
NM_002693.3(POLG):c.1790G>A (p.Arg597Gln) rs1001570418 0.00001
NM_002693.3(POLG):c.1883G>A (p.Arg628Gln) rs201871736 0.00001
NM_002693.3(POLG):c.2474T>C (p.Val825Ala) rs763453929 0.00001
NM_002693.3(POLG):c.2599C>G (p.Pro867Ala) rs1230595198 0.00001
NM_002693.3(POLG):c.2651A>G (p.Tyr884Cys) rs1057519140 0.00001
NM_002693.3(POLG):c.2782G>A (p.Gly928Ser) rs759944038 0.00001
NM_002693.3(POLG):c.3006G>C (p.Glu1002Asp) rs990343459 0.00001
NM_002693.3(POLG):c.3101G>A (p.Arg1034Lys) rs201014720 0.00001
NM_002693.3(POLG):c.3140G>A (p.Arg1047Gln) rs768028281 0.00001
NM_002693.3(POLG):c.3211C>T (p.Arg1071Cys) rs762593265 0.00001
NM_002693.3(POLG):c.3346A>G (p.Met1116Val) rs201144044 0.00001
NM_002693.3(POLG):c.3347T>C (p.Met1116Thr) rs764036283 0.00001
NM_002693.3(POLG):c.3442C>T (p.Arg1148Cys) rs149099318 0.00001
NM_002693.3(POLG):c.3505G>A (p.Gly1169Ser) rs753864625 0.00001
NM_002693.3(POLG):c.3542G>A (p.Ser1181Asn) rs149921636 0.00001
NM_002693.3(POLG):c.851T>C (p.Ile284Thr) rs2055574542 0.00001
NM_002693.3(POLG):c.862C>T (p.Arg288Cys) rs564582352 0.00001
NM_002693.3(POLG):c.1114G>A (p.Glu372Lys)
NM_002693.3(POLG):c.1274C>A (p.Ala425Asp)
NM_002693.3(POLG):c.1309G>T (p.Val437Phe)
NM_002693.3(POLG):c.1558G>A (p.Ala520Thr) rs764756949
NM_002693.3(POLG):c.1640C>A (p.Ala547Asp) rs1567190832
NM_002693.3(POLG):c.1772T>G (p.Leu591Arg) rs756072588
NM_002693.3(POLG):c.1957G>A (p.Glu653Lys) rs1414913115
NM_002693.3(POLG):c.2121C>A (p.Asn707Lys) rs755502359
NM_002693.3(POLG):c.2137C>T (p.Pro713Ser)
NM_002693.3(POLG):c.2427-7C>G
NM_002693.3(POLG):c.2437GTG[1] (p.Val814del) rs1596353095
NM_002693.3(POLG):c.2746T>C (p.Phe916Leu)
NM_002693.3(POLG):c.2882T>C (p.Phe961Ser)
NM_002693.3(POLG):c.3034G>T (p.Val1012Leu) rs1596350782
NM_002693.3(POLG):c.3068A>G (p.Gln1023Arg) rs1364906906
NM_002693.3(POLG):c.3235A>C (p.Ile1079Leu) rs756393846
NM_002693.3(POLG):c.3253C>T (p.Pro1085Ser)
NM_002693.3(POLG):c.3327A>C (p.Leu1109Phe) rs2152058767
NM_002693.3(POLG):c.3415T>C (p.Tyr1139His) rs1223325480
NM_002693.3(POLG):c.3437G>T (p.Arg1146Leu) rs1202309863
NM_002693.3(POLG):c.3443G>T (p.Arg1148Leu) rs145004638
NM_002693.3(POLG):c.3503T>G (p.Leu1168Arg)
NM_002693.3(POLG):c.3521C>G (p.Pro1174Arg) rs1288906554
NM_002693.3(POLG):c.3536T>G (p.Phe1179Cys)
NM_002693.3(POLG):c.3542G>T (p.Ser1181Ile)
NM_002693.3(POLG):c.3557A>T (p.Asp1186Val) rs1057519139
NM_002693.3(POLG):c.899C>T (p.Ala300Val) rs2055561547

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