ClinVar Miner

List of variants reported as likely benign for Mitochondrial trifunctional protein deficiency by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 220
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HGVS dbSNP gnomAD frequency
NM_000183.3(HADHB):c.1206C>T (p.Tyr402=) rs146538551 0.00086
NM_000183.3(HADHB):c.1224+5G>A rs559277360 0.00059
NM_000183.3(HADHB):c.1119T>C (p.Ile373=) rs77943157 0.00052
NM_000183.3(HADHB):c.254+8A>G rs370597816 0.00038
NM_000183.3(HADHB):c.171G>A (p.Val57=) rs201804764 0.00027
NM_000183.3(HADHB):c.64+15del rs771594408 0.00021
NM_000183.3(HADHB):c.1389+4C>T rs192854755 0.00005
NM_000183.3(HADHB):c.1390-5T>C rs372429293 0.00005
NM_000183.3(HADHB):c.426C>T (p.Asn142=) rs777313153 0.00004
NM_000183.3(HADHB):c.510T>C (p.Asp170=) rs374852324 0.00004
NM_000183.3(HADHB):c.64+15A>T rs1018820638 0.00004
NM_000183.3(HADHB):c.631-15T>C rs767590983 0.00003
NM_000183.3(HADHB):c.1089A>G (p.Leu363=) rs140869593 0.00002
NM_000183.3(HADHB):c.126G>A (p.Thr42=) rs1475892789 0.00002
NM_000183.3(HADHB):c.1389+8dup rs1484394551 0.00002
NM_000183.3(HADHB):c.210-9G>A rs538575997 0.00002
NM_000183.3(HADHB):c.822A>G (p.Thr274=) rs760136055 0.00002
NM_000183.3(HADHB):c.1050A>G (p.Gln350=) rs753777514 0.00001
NM_000183.3(HADHB):c.1098A>T (p.Ala366=) rs748353295 0.00001
NM_000183.3(HADHB):c.1149+15A>G rs1053513949 0.00001
NM_000183.3(HADHB):c.1188T>C (p.Asp396=) rs541350589 0.00001
NM_000183.3(HADHB):c.213T>C (p.Tyr71=) rs1255649817 0.00001
NM_000183.3(HADHB):c.423C>T (p.Ala141=) rs374569092 0.00001
NM_000183.3(HADHB):c.443-11G>A rs777434443 0.00001
NM_000183.3(HADHB):c.618C>T (p.Phe206=) rs757949243 0.00001
NM_000183.3(HADHB):c.693C>T (p.Ala231=) rs768034989 0.00001
NM_000183.3(HADHB):c.735A>G (p.Ala245=) rs1378842987 0.00001
NM_000183.3(HADHB):c.811+11A>G rs763763725 0.00001
NM_000183.3(HADHB):c.90C>G (p.Ser30=) rs757653389 0.00001
NM_000183.3(HADHB):c.1009T>C (p.Leu337=)
NM_000183.3(HADHB):c.1013+18A>G
NM_000183.3(HADHB):c.1013+19C>G
NM_000183.3(HADHB):c.1013+19C>T
NM_000183.3(HADHB):c.1013+21_1013+25dup
NM_000183.3(HADHB):c.1014-15dup
NM_000183.3(HADHB):c.1014-18C>G
NM_000183.3(HADHB):c.1014-4C>G
NM_000183.3(HADHB):c.1014-4C>T
NM_000183.3(HADHB):c.1014-7T>C rs2147830061
NM_000183.3(HADHB):c.1026T>C (p.Tyr342=)
NM_000183.3(HADHB):c.1053A>G (p.Leu351=)
NM_000183.3(HADHB):c.1061+17A>G
NM_000183.3(HADHB):c.1062-14T>C
NM_000183.3(HADHB):c.1062-16T>C
NM_000183.3(HADHB):c.1062-18_1062-15del
NM_000183.3(HADHB):c.1071T>C (p.Tyr357=)
NM_000183.3(HADHB):c.1098A>G (p.Ala366=)
NM_000183.3(HADHB):c.1137T>C (p.His379=)
NM_000183.3(HADHB):c.1149+17A>T
NM_000183.3(HADHB):c.1149+19A>T
NM_000183.3(HADHB):c.1150-13T>C
NM_000183.3(HADHB):c.1150-18G>A
NM_000183.3(HADHB):c.1150-18G>T
NM_000183.3(HADHB):c.1150-19C>T
NM_000183.3(HADHB):c.1150-20T>G
NM_000183.3(HADHB):c.1173A>G (p.Lys391=)
NM_000183.3(HADHB):c.1176C>A (p.Ala392=)
NM_000183.3(HADHB):c.1212T>C (p.Gly404=)
NM_000183.3(HADHB):c.1221C>G (p.Thr407=)
NM_000183.3(HADHB):c.1224+10T>C
NM_000183.3(HADHB):c.1224+11A>G
NM_000183.3(HADHB):c.1224+16T>A
NM_000183.3(HADHB):c.1224+9C>A
NM_000183.3(HADHB):c.1225-11G>T
NM_000183.3(HADHB):c.1225-15C>G
NM_000183.3(HADHB):c.1225-6A>T
NM_000183.3(HADHB):c.1254T>C (p.Asn418=)
NM_000183.3(HADHB):c.1269T>C (p.Ser423=)
NM_000183.3(HADHB):c.1284C>T (p.His428=)
NM_000183.3(HADHB):c.1287A>G (p.Pro429=)
NM_000183.3(HADHB):c.1296C>T (p.Ala432=)
NM_000183.3(HADHB):c.1309T>C (p.Leu437=)
NM_000183.3(HADHB):c.1341A>G (p.Lys447=)
NM_000183.3(HADHB):c.1350C>A (p.Gly450=)
NM_000183.3(HADHB):c.1353G>A (p.Gln451=)
NM_000183.3(HADHB):c.1359C>T (p.Gly453=)
NM_000183.3(HADHB):c.135G>T (p.Thr45=)
NM_000183.3(HADHB):c.1368T>C (p.Ala456=)
NM_000183.3(HADHB):c.1371G>T (p.Ala457=)
NM_000183.3(HADHB):c.1377A>C (p.Ala459=)
NM_000183.3(HADHB):c.1386G>A (p.Gly462=)
NM_000183.3(HADHB):c.1389+10A>C
NM_000183.3(HADHB):c.1389+10A>G
NM_000183.3(HADHB):c.1389+11G>A
NM_000183.3(HADHB):c.138A>G (p.Leu46=)
NM_000183.3(HADHB):c.1390-4A>G
NM_000183.3(HADHB):c.1416T>C (p.Tyr472=)
NM_000183.3(HADHB):c.1422A>G (p.Lys474=)
NM_000183.3(HADHB):c.162T>A (p.Val54=)
NM_000183.3(HADHB):c.162T>C (p.Val54=)
NM_000183.3(HADHB):c.168G>T (p.Val56=)
NM_000183.3(HADHB):c.183C>T (p.Arg61=)
NM_000183.3(HADHB):c.189A>T (p.Pro63=)
NM_000183.3(HADHB):c.204C>T (p.Gly68=)
NM_000183.3(HADHB):c.209+10A>G
NM_000183.3(HADHB):c.209+10A>T
NM_000183.3(HADHB):c.209+12A>G
NM_000183.3(HADHB):c.209+13T>C
NM_000183.3(HADHB):c.209+14G>C
NM_000183.3(HADHB):c.209+14_209+15del
NM_000183.3(HADHB):c.209+16T>C
NM_000183.3(HADHB):c.209+18A>G
NM_000183.3(HADHB):c.209+20A>G
NM_000183.3(HADHB):c.209+7A>G rs773618132
NM_000183.3(HADHB):c.210-10C>T
NM_000183.3(HADHB):c.210-18C>G
NM_000183.3(HADHB):c.210-18C>T
NM_000183.3(HADHB):c.210-4C>G
NM_000183.3(HADHB):c.219C>T (p.Asp73=)
NM_000183.3(HADHB):c.21C>G (p.Pro7=)
NM_000183.3(HADHB):c.21C>T (p.Pro7=)
NM_000183.3(HADHB):c.254+15T>C
NM_000183.3(HADHB):c.254+17T>G
NM_000183.3(HADHB):c.255-13T>C
NM_000183.3(HADHB):c.255-14A>G
NM_000183.3(HADHB):c.255-20C>T
NM_000183.3(HADHB):c.255-7C>T
NM_000183.3(HADHB):c.279C>T (p.Val93=)
NM_000183.3(HADHB):c.288A>G (p.Glu96=)
NM_000183.3(HADHB):c.303C>A (p.Ile101=)
NM_000183.3(HADHB):c.306C>A (p.Ile102=)
NM_000183.3(HADHB):c.315A>G (p.Thr105=)
NM_000183.3(HADHB):c.330G>A (p.Val110=)
NM_000183.3(HADHB):c.354+17T>G
NM_000183.3(HADHB):c.354+20T>A
NM_000183.3(HADHB):c.355-11A>G
NM_000183.3(HADHB):c.355-13_355-12del
NM_000183.3(HADHB):c.355-15C>T
NM_000183.3(HADHB):c.355-17C>G
NM_000183.3(HADHB):c.355-20A>C
NM_000183.3(HADHB):c.360C>T (p.Ala120=) rs2147823124
NM_000183.3(HADHB):c.399T>C (p.Thr133=)
NM_000183.3(HADHB):c.405C>T (p.Thr135=)
NM_000183.3(HADHB):c.417C>T (p.Ile139=)
NM_000183.3(HADHB):c.432C>G (p.Ala144=)
NM_000183.3(HADHB):c.442+12T>C
NM_000183.3(HADHB):c.442+15A>G
NM_000183.3(HADHB):c.442+15A>T
NM_000183.3(HADHB):c.442+18C>T
NM_000183.3(HADHB):c.443-13del
NM_000183.3(HADHB):c.443-20G>A
NM_000183.3(HADHB):c.443-4G>A
NM_000183.3(HADHB):c.443-4G>C
NM_000183.3(HADHB):c.451T>C (p.Leu151=)
NM_000183.3(HADHB):c.474T>C (p.Asp158=)
NM_000183.3(HADHB):c.480C>T (p.Ile160=)
NM_000183.3(HADHB):c.486A>C (p.Ala162=)
NM_000183.3(HADHB):c.489T>C (p.Gly163=)
NM_000183.3(HADHB):c.507C>G (p.Ser169=)
NM_000183.3(HADHB):c.507C>T (p.Ser169=)
NM_000183.3(HADHB):c.544C>T (p.Leu182=)
NM_000183.3(HADHB):c.54C>T (p.Ala18=)
NM_000183.3(HADHB):c.564G>A (p.Lys188=)
NM_000183.3(HADHB):c.57C>T (p.Leu19=)
NM_000183.3(HADHB):c.588G>A (p.Leu196=)
NM_000183.3(HADHB):c.597C>T (p.Ile199=)
NM_000183.3(HADHB):c.609A>C (p.Arg203=)
NM_000183.3(HADHB):c.630+10G>A
NM_000183.3(HADHB):c.630+16G>A
NM_000183.3(HADHB):c.630+19G>A
NM_000183.3(HADHB):c.631-11T>C
NM_000183.3(HADHB):c.631-16A>C
NM_000183.3(HADHB):c.631-16A>G
NM_000183.3(HADHB):c.631-16A>T
NM_000183.3(HADHB):c.631-17G>A
NM_000183.3(HADHB):c.631-17G>T
NM_000183.3(HADHB):c.631-6T>C
NM_000183.3(HADHB):c.631-9C>T
NM_000183.3(HADHB):c.639G>A (p.Ala213=)
NM_000183.3(HADHB):c.64+10T>C
NM_000183.3(HADHB):c.64+13T>C
NM_000183.3(HADHB):c.64+7TTA[2]
NM_000183.3(HADHB):c.648G>A (p.Glu216=)
NM_000183.3(HADHB):c.65-15T>A
NM_000183.3(HADHB):c.65-19A>G
NM_000183.3(HADHB):c.65-8T>C
NM_000183.3(HADHB):c.65-9G>A
NM_000183.3(HADHB):c.651C>T (p.Phe217=)
NM_000183.3(HADHB):c.657C>T (p.Thr219=)
NM_000183.3(HADHB):c.666C>T (p.Thr222=)
NM_000183.3(HADHB):c.672C>G (p.Gly224=)
NM_000183.3(HADHB):c.672C>T (p.Gly224=)
NM_000183.3(HADHB):c.678T>A (p.Ser226=)
NM_000183.3(HADHB):c.696T>C (p.Ala232=)
NM_000183.3(HADHB):c.699C>T (p.Ala233=)
NM_000183.3(HADHB):c.714G>A (p.Arg238=)
NM_000183.3(HADHB):c.736C>T (p.Leu246=)
NM_000183.3(HADHB):c.741C>T (p.Arg247=)
NM_000183.3(HADHB):c.747C>T (p.His249=)
NM_000183.3(HADHB):c.756C>T (p.Ala252=)
NM_000183.3(HADHB):c.762G>A (p.Lys254=)
NM_000183.3(HADHB):c.807A>C (p.Val269=)
NM_000183.3(HADHB):c.811+15T>A
NM_000183.3(HADHB):c.812-11T>G
NM_000183.3(HADHB):c.812-14C>G
NM_000183.3(HADHB):c.812-14C>T
NM_000183.3(HADHB):c.812-16T>A
NM_000183.3(HADHB):c.812-5A>C rs72851534
NM_000183.3(HADHB):c.828C>G (p.Thr276=)
NM_000183.3(HADHB):c.87C>T (p.Ser29=)
NM_000183.3(HADHB):c.894G>A (p.Lys298=)
NM_000183.3(HADHB):c.897C>G (p.Pro299=)
NM_000183.3(HADHB):c.897C>T (p.Pro299=)
NM_000183.3(HADHB):c.90C>T (p.Ser30=)
NM_000183.3(HADHB):c.915T>G (p.Ala305=)
NM_000183.3(HADHB):c.924T>G (p.Ser308=)
NM_000183.3(HADHB):c.930C>T (p.Phe310=)
NM_000183.3(HADHB):c.933+16A>G
NM_000183.3(HADHB):c.933+20G>A
NM_000183.3(HADHB):c.933+8T>C
NM_000183.3(HADHB):c.934-10A>G
NM_000183.3(HADHB):c.934-13G>A
NM_000183.3(HADHB):c.934-13G>C
NM_000183.3(HADHB):c.934-16C>T
NM_000183.3(HADHB):c.936T>G (p.Thr312=)
NM_000183.3(HADHB):c.945A>G (p.Ala315=)
NM_000183.3(HADHB):c.948T>A (p.Ser316=)
NM_000183.3(HADHB):c.951A>G (p.Ala317=)
NM_000183.3(HADHB):c.979C>T (p.Leu327=)
NM_000183.3(HADHB):c.999G>A (p.Pro333=)

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