ClinVar Miner

List of variants studied for Progressive sclerosing poliodystrophy; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Mitochondrial DNA depletion syndrome 4b by Fulgent Genetics, Fulgent Genetics

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Total variants: 83
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00151
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00093
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00076
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) rs113994095 0.00068
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys) rs201477273 0.00033
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) rs113994098 0.00028
NM_002693.3(POLG):c.328C>T (p.His110Tyr) rs139599587 0.00026
NM_002693.3(POLG):c.2246T>C (p.Phe749Ser) rs202037973 0.00025
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp) rs181860632 0.00010
NM_002693.3(POLG):c.460G>A (p.Ala154Thr) rs753858440 0.00009
NM_002693.3(POLG):c.2740A>C (p.Thr914Pro) rs139590686 0.00008
NM_002693.3(POLG):c.3287G>A (p.Arg1096His) rs368435864 0.00006
NM_002693.3(POLG):c.868C>T (p.Arg290Cys) rs753416225 0.00006
NM_002693.3(POLG):c.1433+1G>A rs771623994 0.00004
NM_002693.3(POLG):c.2566G>A (p.Glu856Lys) rs1032930719 0.00004
NM_002693.3(POLG):c.3104+3A>T rs778573169 0.00004
NM_002693.3(POLG):c.2420G>A (p.Arg807His) rs796052887 0.00003
NM_002693.3(POLG):c.2446C>G (p.Leu816Val) rs748262645 0.00003
NM_002693.3(POLG):c.2557C>T (p.Arg853Trp) rs121918053 0.00003
NM_002693.3(POLG):c.3151G>A (p.Gly1051Arg) rs121918049 0.00003
NM_002693.3(POLG):c.911T>G (p.Leu304Arg) rs121918044 0.00003
NM_002693.3(POLG):c.1156C>T (p.Arg386Cys) rs199759055 0.00002
NM_002693.3(POLG):c.2665G>A (p.Ala889Thr) rs763393580 0.00002
NM_002693.3(POLG):c.2897T>G (p.Leu966Arg) rs142347031 0.00002
NM_002693.3(POLG):c.1252T>C (p.Cys418Arg) rs758112770 0.00001
NM_002693.3(POLG):c.1735C>T (p.Arg579Trp) rs556925652 0.00001
NM_002693.3(POLG):c.1789C>T (p.Arg597Trp) rs139717885 0.00001
NM_002693.3(POLG):c.1879C>T (p.Arg627Trp) rs121918046 0.00001
NM_002693.3(POLG):c.191C>G (p.Ser64Trp) rs1397887879 0.00001
NM_002693.3(POLG):c.1943C>G (p.Pro648Arg) rs796052906 0.00001
NM_002693.3(POLG):c.2419C>T (p.Arg807Cys) rs769827124 0.00001
NM_002693.3(POLG):c.2591A>G (p.Asn864Ser) rs121918050 0.00001
NM_002693.3(POLG):c.2608G>C (p.Val870Leu) rs1329611992 0.00001
NM_002693.3(POLG):c.2869G>C (p.Ala957Pro) rs121918051 0.00001
NM_002693.3(POLG):c.3317T>C (p.Val1106Ala) rs1354582663 0.00001
NM_002693.3(POLG):c.3550G>A (p.Asp1184Asn) rs1131691575 0.00001
NM_002693.3(POLG):c.679C>T (p.Arg227Trp) rs121918056 0.00001
NM_002693.3(POLG):c.1023+1G>C
NM_002693.3(POLG):c.1157G>C (p.Arg386Pro)
NM_002693.3(POLG):c.1170+1G>C
NM_002693.3(POLG):c.130C>T (p.Gln44Ter) rs2509277475
NM_002693.3(POLG):c.1345C>T (p.Gln449Ter) rs1567191417
NM_002693.3(POLG):c.1356T>G (p.Tyr452Ter) rs3176179
NM_002693.3(POLG):c.1552del (p.Ala518fs)
NM_002693.3(POLG):c.1575_1578del (p.Met525fs) rs1253517114
NM_002693.3(POLG):c.1663del (p.Thr555fs)
NM_002693.3(POLG):c.1716G>A (p.Trp572Ter) rs767709505
NM_002693.3(POLG):c.178C>T (p.Gln60Ter) rs780379693
NM_002693.3(POLG):c.1949+1G>C
NM_002693.3(POLG):c.2125C>T (p.Arg709Ter) rs867038717
NM_002693.3(POLG):c.2185C>T (p.Gln729Ter)
NM_002693.3(POLG):c.2209G>A (p.Gly737Arg) rs121918054
NM_002693.3(POLG):c.2209G>T (p.Gly737Ter)
NM_002693.3(POLG):c.2479_2480+8del
NM_002693.3(POLG):c.2480+1G>T rs1567187326
NM_002693.3(POLG):c.2605C>T (p.Arg869Ter) rs751376824
NM_002693.3(POLG):c.2606G>A (p.Arg869Gln) rs1356604153
NM_002693.3(POLG):c.2674dup (p.Asp892fs) rs1283198587
NM_002693.3(POLG):c.2768G>A (p.Gly923Asp)
NM_002693.3(POLG):c.2794C>T (p.His932Tyr) rs121918048
NM_002693.3(POLG):c.2884dup (p.Ala962fs) rs1252078081
NM_002693.3(POLG):c.2902C>G (p.Gln968Glu)
NM_002693.3(POLG):c.3014_3057del (p.Val1005fs) rs886041276
NM_002693.3(POLG):c.3104+2_3104+5del rs761664802
NM_002693.3(POLG):c.3104+3A>C
NM_002693.3(POLG):c.3151G>C (p.Gly1051Arg) rs121918049
NM_002693.3(POLG):c.3229dup (p.Cys1077fs) rs1468794540
NM_002693.3(POLG):c.3374T>A (p.Ile1125Lys)
NM_002693.3(POLG):c.3430_3433dup (p.Asp1145fs) rs1567185048
NM_002693.3(POLG):c.3482+2T>C rs1466226819
NM_002693.3(POLG):c.3514_3517dup (p.Leu1173Ter)
NM_002693.3(POLG):c.3601del (p.Ser1201fs) rs781311846
NM_002693.3(POLG):c.3626_3629dup (p.Tyr1210Ter) rs2055307723
NM_002693.3(POLG):c.45dup (p.Pro16fs)
NM_002693.3(POLG):c.590_596del (p.Phe197fs) rs2509274839
NM_002693.3(POLG):c.660-2A>G rs2141806882
NM_002693.3(POLG):c.814del (p.Ser272fs)
NM_002693.3(POLG):c.824G>A (p.Arg275Gln) rs1555453950
NM_002693.3(POLG):c.830A>T (p.His277Leu) rs138929605
NM_002693.3(POLG):c.844T>G (p.Tyr282Asp) rs1290567099
NM_002693.3(POLG):c.86C>G (p.Ser29Cys) rs796052895
NM_002693.3(POLG):c.880_881del (p.Thr294fs)
NM_002693.3(POLG):c.967C>T (p.Gln323Ter) rs2509262137

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