ClinVar Miner

List of variants reported as pathogenic for mitochondrial neurogastrointestinal encephalomyopathy

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 106
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HGVS dbSNP gnomAD frequency
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.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
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_001953.5(TYMP):c.622G>A (p.Val208Met) rs121913039 0.00027
NM_001953.5(TYMP):c.665A>G (p.Lys222Arg) rs149977726 0.00010
NM_002693.3(POLG):c.2740A>C (p.Thr914Pro) rs139590686 0.00008
NM_001953.5(TYMP):c.433G>A (p.Gly145Arg) rs121913037 0.00007
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys) rs144500145 0.00006
NM_001953.5(TYMP):c.866A>C (p.Glu289Ala) rs121913036 0.00005
NM_001953.5(TYMP):c.1160-1G>A rs797044455 0.00004
NM_001953.5(TYMP):c.128A>C (p.Lys43Thr) rs752137335 0.00004
NM_001953.5(TYMP):c.215-1G>C rs767245071 0.00004
NM_001953.5(TYMP):c.931G>A (p.Gly311Ser) rs121913040 0.00004
NM_002693.3(POLG):c.1433+1G>A rs771623994 0.00004
NM_002693.3(POLG):c.911T>G (p.Leu304Arg) rs121918044 0.00004
NM_001953.5(TYMP):c.1159+1G>A rs1044840059 0.00003
NM_001953.5(TYMP):c.856G>A (p.Glu286Lys) rs866001342 0.00003
NM_001953.5(TYMP):c.646+1G>A rs760629248 0.00002
NM_002693.3(POLG):c.3218C>T (p.Pro1073Leu) rs267606959 0.00002
NM_001953.5(TYMP):c.1159G>A (p.Gly387Ser) rs1060499534 0.00001
NM_001953.5(TYMP):c.1300+1G>A rs1064792878 0.00001
NM_001953.5(TYMP):c.235C>T (p.Arg79Ter) rs2069504242 0.00001
NM_001953.5(TYMP):c.340G>A (p.Asp114Asn) rs1064792861 0.00001
NM_001953.5(TYMP):c.457G>A (p.Gly153Ser) rs121913038 0.00001
NM_001953.5(TYMP):c.628A>C (p.Ser210Arg) rs761665644 0.00001
NM_001953.5(TYMP):c.760A>C (p.Thr254Pro) rs1064792870 0.00001
NM_001953.5(TYMP):c.854T>C (p.Leu285Pro) rs121913042 0.00001
NM_001953.5(TYMP):c.865G>A (p.Glu289Lys) rs946234163 0.00001
NM_001953.5(TYMP):c.929-1G>A rs1180285291 0.00001
NM_002693.3(POLG):c.2143C>T (p.Gln715Ter) rs1254855971 0.00001
NM_002693.3(POLG):c.2591A>G (p.Asn864Ser) rs121918050 0.00001
NM_002693.3(POLG):c.679C>T (p.Arg227Trp) rs121918056 0.00001
NM_022336.4(EDAR):c.266G>A (p.Arg89His) rs121908450 0.00001
NC_012920.1(MT-TK):m.8313G>A rs118192101
NM_001953.4(TYMP):c.929-3G>A
NM_001953.4(TYMP):c.929-6_929-3del rs201685922
NM_001953.5(TYMP):c.1010_1019delinsAA (p.Gly337fs) rs1064792892
NM_001953.5(TYMP):c.1048C>T (p.Gln350Ter) rs765023287
NM_001953.5(TYMP):c.1067T>C (p.Leu356Pro) rs1060499532
NM_001953.5(TYMP):c.1088del (p.Gly363fs) rs1060499535
NM_001953.5(TYMP):c.1112T>C (p.Leu371Pro) rs1060499533
NM_001953.5(TYMP):c.112G>T (p.Glu38Ter) rs1054084896
NM_001953.5(TYMP):c.1159+2T>A rs770277446
NM_001953.5(TYMP):c.1160-1G>C rs797044455
NM_001953.5(TYMP):c.1160-2A>C rs1064792877
NM_001953.5(TYMP):c.1160-2A>G rs1064792877
NM_001953.5(TYMP):c.1160G>A (p.Gly387Asp) rs1064792873
NM_001953.5(TYMP):c.1187CGCTGG[1] (p.Ala398_Leu399del) rs786205098
NM_001953.5(TYMP):c.1198_1203del (p.Val400_Leu401del) rs1027855768
NM_001953.5(TYMP):c.11del (p.Ala3_Leu4insTer) rs764792655
NM_001953.5(TYMP):c.1211dup (p.Gly405fs) rs1556486467
NM_001953.5(TYMP):c.1282G>A (p.Gly428Ser) rs1064792874
NM_001953.5(TYMP):c.1300+2T>A rs1064792879
NM_001953.5(TYMP):c.1301-1G>A rs773785934
NM_001953.5(TYMP):c.1311del (p.Trp437fs) rs1064792889
NM_001953.5(TYMP):c.131G>A (p.Arg44Gln) rs28931613
NM_001953.5(TYMP):c.1327_1346del (p.Asp443fs) rs1064792890
NM_001953.5(TYMP):c.1351dup (p.Gln451fs) rs1556486029
NM_001953.5(TYMP):c.1360G>C (p.Ala454Pro) rs764275775
NM_001953.5(TYMP):c.1395_1400del (p.Pro466_Phe467del) rs1064792891
NM_001953.5(TYMP):c.1410dup (p.Ser471fs) rs786205097
NM_001953.5(TYMP):c.1412C>A (p.Ser471Ter) rs11479
NM_001953.5(TYMP):c.1431dup (p.Leu478fs) rs1064792885
NM_001953.5(TYMP):c.146T>G (p.Leu49Arg) rs1064792857
NM_001953.5(TYMP):c.162C>G (p.Ile54Met) rs1064792858
NM_001953.5(TYMP):c.228G>A (p.Met76Ile) rs1064792859
NM_001953.5(TYMP):c.261G>C (p.Glu87Asp) rs749827433
NM_001953.5(TYMP):c.261G>T (p.Glu87Asp) rs749827433
NM_001953.5(TYMP):c.263_264del (p.Thr88fs) rs1064792886
NM_001953.5(TYMP):c.275C>A (p.Thr92Asn) rs891107196
NM_001953.5(TYMP):c.323G>A (p.Trp108Ter)
NM_001953.5(TYMP):c.328C>T (p.Gln110Ter) rs1064792860
NM_001953.5(TYMP):c.398T>C (p.Leu133Pro) rs1064792862
NM_001953.5(TYMP):c.401C>A (p.Ala134Glu) rs199901350
NM_001953.5(TYMP):c.417+1G>A rs1603442040
NM_001953.5(TYMP):c.467A>G (p.Asp156Gly) rs1064792863
NM_001953.5(TYMP):c.478T>C (p.Ser160Pro) rs1064792864
NM_001953.5(TYMP):c.516+2T>A rs797044454
NM_001953.5(TYMP):c.516+2T>C rs797044454
NM_001953.5(TYMP):c.518T>G (p.Met173Arg) rs1064792865
NM_001953.5(TYMP):c.530T>C (p.Leu177Pro) rs1064792866
NM_001953.5(TYMP):c.605G>A (p.Arg202Lys) rs121913041
NM_001953.5(TYMP):c.605G>C (p.Arg202Thr) rs121913041
NM_001953.5(TYMP):c.623T>G (p.Val208Gly) rs1064792867
NM_001953.5(TYMP):c.707T>C (p.Phe236Ser) rs1064792868
NM_001953.5(TYMP):c.715G>A (p.Ala239Thr) rs1064792869
NM_001953.5(TYMP):c.720del (p.Val241fs) rs1064792887
NM_001953.5(TYMP):c.763_765del (p.Leu255del) rs1556488264
NM_001953.5(TYMP):c.784del (p.Ser261_Leu262insTer) rs1064792888
NM_001953.5(TYMP):c.847C>G (p.His283Asp) rs1064792871
NM_001953.5(TYMP):c.86dup (p.Ser30fs)
NM_001953.5(TYMP):c.893G>A (p.Gly298Asp) rs1064792872
NM_001953.5(TYMP):c.928+1G>A rs1064792876
NM_001953.5(TYMP):c.931G>C (p.Gly311Arg) rs121913040
NM_001953.5(TYMP):c.931G>T (p.Gly311Cys) rs121913040
NM_001953.5(TYMP):c.938T>C (p.Leu313Pro) rs892141220
NM_001953.5(TYMP):c.994_1011dup (p.Gly337_Ser338insAlaAlaLeuAspAspGly) rs1064792881
NM_001953.5(TYMP):c.99dup (p.Lys34fs) rs1064792880
NM_002693.3(POLG):c.1457G>A (p.Trp486Ter) rs2055531147
NM_002693.3(POLG):c.3643+2T>C rs1335880349
NM_002693.3(POLG):c.925C>T (p.Arg309Cys) rs886041592
c.52_53delCT

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