ClinVar Miner

List of variants in gene POLG reported as uncertain significance for hereditary skeletal muscle disorder

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.2492A>G (p.Tyr831Cys) rs41549716 0.00708
NM_002693.3(POLG):c.1550G>T (p.Gly517Val) rs61752783 0.00516
NM_002693.3(POLG):c.803G>C (p.Gly268Ala) rs61752784 0.00364
NM_002693.3(POLG):c.1174C>G (p.Leu392Val) rs145289229 0.00194
NM_002693.3(POLG):c.1837C>T (p.His613Tyr) rs147407423 0.00166
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs11394094 0.00159
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.3098C>T (p.Ala1033Val) rs551708243 0.00032
NM_002693.3(POLG):c.2369G>A (p.Arg790His) rs191490663 0.00021
NM_002693.3(POLG):c.2021G>A (p.Gly674Asp) rs200257554 0.00017
NM_002693.3(POLG):c.1403A>G (p.Asn468Ser) rs368614463 0.00012
NM_002693.3(POLG):c.3176A>G (p.Asn1059Ser) rs201192905 0.00009
NM_002693.3(POLG):c.1097G>C (p.Gly366Ala) rs757315161 0.00006
NM_002693.3(POLG):c.2218A>G (p.Asn740Asp) rs78347903 0.00006
NM_002693.3(POLG):c.2069C>T (p.Thr690Met) rs201677865 0.00004
NM_002693.3(POLG):c.2085T>G (p.Asp695Glu) rs776848222 0.00004
NM_002693.3(POLG):c.2509T>C (p.Tyr837His) rs544828395 0.00004
NM_002693.3(POLG):c.3425G>A (p.Arg1142Gln) rs536732038 0.00004
NM_002693.3(POLG):c.2027C>T (p.Ala676Val) rs376306906 0.00003
NM_002693.3(POLG):c.2704C>G (p.Leu902Val) rs745528696 0.00003
NM_002693.3(POLG):c.2977C>T (p.Arg993Cys) rs551811489 0.00003
NM_002693.3(POLG):c.3215C>G (p.Thr1072Ser) rs530757118 0.00003
NM_002693.3(POLG):c.3383G>A (p.Arg1128His) rs1405268319 0.00003
NM_002693.3(POLG):c.739C>G (p.Leu247Val) rs754696832 0.00003
NM_002693.3(POLG):c.895A>G (p.Met299Val) rs140262282 0.00003
NM_002693.3(POLG):c.1156C>T (p.Arg386Cys) rs199759055 0.00002
NM_002693.3(POLG):c.1613A>C (p.Glu538Ala) rs767216577 0.00002
NM_002693.3(POLG):c.1615_1623del (p.Phe539_Gln541del) rs754586219 0.00002
NM_002693.3(POLG):c.2446C>G (p.Leu816Val) rs748262645 0.00002
NM_002693.3(POLG):c.2468G>A (p.Arg823His) rs751172552 0.00002
NM_002693.3(POLG):c.3076C>T (p.Arg1026Cys) rs760043525 0.00002
NM_002693.3(POLG):c.3077G>A (p.Arg1026His) rs777038915 0.00002
NM_002693.3(POLG):c.3532G>A (p.Ala1178Thr) rs770149949 0.00002
NM_002693.3(POLG):c.3560G>A (p.Arg1187Gln) rs199678775 0.00002
NM_002693.3(POLG):c.1328G>A (p.Arg443His) rs796052903 0.00001
NM_002693.3(POLG):c.1669G>C (p.Glu557Gln) rs1481695998 0.00001
NM_002693.3(POLG):c.1882C>T (p.Arg628Trp) rs754245040 0.00001
NM_002693.3(POLG):c.1907C>G (p.Thr636Arg) rs917815816 0.00001
NM_002693.3(POLG):c.1936G>T (p.Val646Phe) rs757131755 0.00001
NM_002693.3(POLG):c.2257C>T (p.Pro753Ser) rs1446536384 0.00001
NM_002693.3(POLG):c.2510A>G (p.Tyr837Cys) rs778190998 0.00001
NM_002693.3(POLG):c.2608G>C (p.Val870Leu) rs1329611992 0.00001
NM_002693.3(POLG):c.2620T>A (p.Leu874Met) rs758402960 0.00001
NM_002693.3(POLG):c.3037G>T (p.Asp1013Tyr) rs1307399071 0.00001
NM_002693.3(POLG):c.3204C>G (p.Asp1068Glu) rs1057523186 0.00001
NM_002693.3(POLG):c.3211C>T (p.Arg1071Cys) rs762593265 0.00001
NM_002693.3(POLG):c.3227G>A (p.Gly1076Asp) rs1381291951 0.00001
NM_002693.3(POLG):c.3273+17G>A rs368578878 0.00001
NM_002693.3(POLG):c.3317T>C (p.Val1106Ala) rs1354582663 0.00001
NM_002693.3(POLG):c.3323A>T (p.Tyr1108Phe) rs765949668 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.3527C>T (p.Ser1176Leu) rs776031396 0.00001
NM_002693.3(POLG):c.730C>G (p.Leu244Val) rs367959489 0.00001
NM_002693.3(POLG):c.856-3C>T rs576339221 0.00001
NM_002693.3(POLG):c.862C>T (p.Arg288Cys) rs564582352 0.00001
NM_002693.3(POLG):c.869G>A (p.Arg290His) rs146603953 0.00001
NM_002693.3(POLG):c.995C>T (p.Ser332Phe) rs1567192290 0.00001
NM_002693.3(POLG):c.1276G>A (p.Gly426Ser) rs775576189
NM_002693.3(POLG):c.1403A>T (p.Asn468Ile)
NM_002693.3(POLG):c.1420C>A (p.Leu474Ile) rs1555453653
NM_002693.3(POLG):c.1433+5C>T rs924516946
NM_002693.3(POLG):c.1491G>C (p.Gln497His) rs121918052
NM_002693.3(POLG):c.1570C>G (p.Pro524Ala) rs577476988
NM_002693.3(POLG):c.1787T>G (p.Met596Arg)
NM_002693.3(POLG):c.1811C>T (p.Ala604Val) rs1433922299
NM_002693.3(POLG):c.2059A>G (p.Ile687Val) rs796052881
NM_002693.3(POLG):c.2074GAA[1] (p.Glu693del) rs760784347
NM_002693.3(POLG):c.2094A>C (p.Glu698Asp) rs2152063213
NM_002693.3(POLG):c.2255T>C (p.Leu752Pro) rs2055426653
NM_002693.3(POLG):c.2363_2374del (p.Gly788_Leu792delinsVal)
NM_002693.3(POLG):c.2466C>G (p.Pro822=) rs1235161601
NM_002693.3(POLG):c.2485C>T (p.Pro829Ser) rs906230544
NM_002693.3(POLG):c.2530G>A (p.Val844Met) rs1555452881
NM_002693.3(POLG):c.3151G>T (p.Gly1051Trp) rs121918049
NM_002693.3(POLG):c.3374T>A (p.Ile1125Lys)
NM_002693.3(POLG):c.3393C>G (p.Ile1131Met)
NM_002693.3(POLG):c.3482+6C>T rs55779802
NM_002693.3(POLG):c.3488T>A (p.Met1163Lys)
NM_002693.3(POLG):c.729C>A (p.Asp243Glu) rs757917194
NM_002693.3(POLG):c.975dup (p.Thr326fs)

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