ClinVar Miner

List of variants reported as uncertain significance for mitochondrial DNA depletion syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 112
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.1174C>G (p.Leu392Val) rs145289229 0.00194
NM_003849.4(SUCLG1):c.236G>A (p.Gly79Asp) rs143030960 0.00099
NM_002693.3(POLG):c.2207A>G (p.Asn736Ser) rs138457939 0.00092
NM_003850.3(SUCLA2):c.617A>G (p.Glu206Gly) rs141647723 0.00074
NM_002693.3(POLG):c.578G>A (p.Arg193Gln) rs3176162 0.00071
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_001151.4(SLC25A4):c.*3195T>C rs182549219 0.00056
NM_001151.4(SLC25A4):c.*2824G>C rs371093501 0.00045
NM_003849.4(SUCLG1):c.721G>A (p.Glu241Lys) rs145106503 0.00045
NM_001953.5(TYMP):c.401C>T (p.Ala134Val) rs199901350 0.00044
NM_080916.3(DGUOK):c.211C>G (p.Pro71Ala) rs184770596 0.00044
NM_001151.4(SLC25A4):c.*3317G>A rs752130203 0.00034
NM_002693.3(POLG):c.3098C>T (p.Ala1033Val) rs551708243 0.00032
NM_021830.5(TWNK):c.-592C>T rs774214514 0.00026
NM_001151.4(SLC25A4):c.*3229A>G rs962471297 0.00024
NM_130837.3(OPA1):c.653C>T (p.Ser218Phe) rs200243596 0.00022
NM_002693.3(POLG):c.2369G>A (p.Arg790His) rs191490663 0.00021
NM_001151.4(SLC25A4):c.*1163G>T rs886059272 0.00019
NM_001151.4(SLC25A4):c.*2616C>T rs769378373 0.00018
NM_002693.3(POLG):c.32G>A (p.Gly11Asp) rs765472726 0.00016
NM_001151.4(SLC25A4):c.*3276C>T rs187103619 0.00013
NM_002693.3(POLG):c.1403A>G (p.Asn468Ser) rs368614463 0.00012
NM_001151.4(SLC25A4):c.-65C>T rs1003618782 0.00009
NM_001953.5(TYMP):c.859G>A (p.Val287Met) rs781064742 0.00009
NM_002693.3(POLG):c.3176A>G (p.Asn1059Ser) rs201192905 0.00009
NM_002693.3(POLG):c.719C>T (p.Ser240Leu) rs369175235 0.00008
NM_021830.5(TWNK):c.1190A>G (p.Asp397Gly) rs751144474 0.00008
NM_001953.5(TYMP):c.862G>A (p.Glu288Lys) rs755060408 0.00007
NM_001151.4(SLC25A4):c.*3277G>A rs886059277 0.00006
NM_002693.3(POLG):c.1097G>C (p.Gly366Ala) rs757315161 0.00006
NM_002693.3(POLG):c.346C>T (p.Pro116Ser) rs771676521 0.00006
NM_002693.3(POLG):c.3650C>T (p.Ala1217Val) rs199751339 0.00006
NM_015713.5(RRM2B):c.48+156G>A rs773501860 0.00005
NM_001151.4(SLC25A4):c.*2592C>T rs575736094 0.00004
NM_001151.4(SLC25A4):c.*994G>A rs901529350 0.00004
NM_001953.5(TYMP):c.931G>A (p.Gly311Ser) rs121913040 0.00004
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.331G>C (p.Gly111Arg) rs760170099 0.00004
NM_002693.3(POLG):c.3425G>A (p.Arg1142Gln) rs536732038 0.00004
NM_002693.3(POLG):c.3667A>G (p.Ile1223Val) rs148786642 0.00004
NM_015713.5(RRM2B):c.613A>G (p.Ile205Val) rs144088421 0.00004
NM_018238.4(AGK):c.55C>T (p.Leu19Phe) rs367844999 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.629C>T (p.Thr210Ile) rs1450989575 0.00003
NM_002693.3(POLG):c.739C>G (p.Leu247Val) rs754696832 0.00003
NM_015713.5(RRM2B):c.755G>A (p.Arg252Lys) rs754931572 0.00003
NM_001151.4(SLC25A4):c.331C>A (p.Arg111Ser) rs375543860 0.00002
NM_001151.4(SLC25A4):c.755C>T (p.Thr252Met) rs753197100 0.00002
NM_001953.5(TYMP):c.736G>A (p.Glu246Lys) rs567858165 0.00002
NM_002693.3(POLG):c.1613A>C (p.Glu538Ala) rs767216577 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_001151.4(SLC25A4):c.*151T>C rs373871091 0.00001
NM_002437.5(MPV17):c.283G>A (p.Gly95Ser) rs980207020 0.00001
NM_002693.3(POLG):c.114G>T (p.Gly38=) rs794727268 0.00001
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.200G>C (p.Gly67Ala) rs1399456619 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.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.3442C>T (p.Arg1148Cys) rs149099318 0.00001
NM_002693.3(POLG):c.3505G>A (p.Gly1169Ser) rs753864625 0.00001
NM_002693.3(POLG):c.402C>G (p.Asn134Lys) rs759939229 0.00001
NM_002693.3(POLG):c.431A>G (p.Gln144Arg) rs1056580076 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.869G>A (p.Arg290His) rs146603953 0.00001
NM_002693.3(POLG):c.86C>G (p.Ser29Cys) rs796052895 0.00001
NM_002693.3(POLG):c.995C>T (p.Ser332Phe) rs1567192290 0.00001
NM_015713.5(RRM2B):c.119G>A (p.Arg40His) rs765953819 0.00001
NM_015713.5(RRM2B):c.470A>G (p.Asn157Ser) rs751231428 0.00001
NM_130837.3(OPA1):c.2429G>A (p.Arg810His) rs762258708 0.00001
NM_130837.3(OPA1):c.2617C>T (p.Arg873Trp) rs143252541 0.00001
NM_001151.4(SLC25A4):c.*2475C>T rs192241746
NM_001151.4(SLC25A4):c.*824C>T rs779103031
NM_001278716.2(FBXL4):c.929T>C (p.Leu310Pro) rs2128393288
NM_001953.5(TYMP):c.178G>A (p.Ala60Thr) rs1258773019
NM_002693.3(POLG):c.1276G>A (p.Gly426Ser) rs775576189
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.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.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.729C>A (p.Asp243Glu) rs757917194
NM_002693.3(POLG):c.824G>A (p.Arg275Gln) rs1555453950
NM_006796.3(AFG3L2):c.2314C>A (p.Leu772Ile) rs117182113
NM_015713.5(RRM2B):c.*74del rs886062569
NM_015713.5(RRM2B):c.143A>G (p.Gln48Arg) rs747846279
NM_015713.5(RRM2B):c.258G>T (p.Lys86Asn) rs536874925
NM_015713.5(RRM2B):c.48+188del rs758091261

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