ClinVar Miner

List of variants in gene SDHC reported by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 284
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HGVS dbSNP gnomAD frequency
NM_003001.5(SDHC):c.354T>C (p.Phe118=) rs61733156 0.00454
NM_003001.5(SDHC):c.120G>A (p.Arg40=) rs36097930 0.00020
NM_003001.5(SDHC):c.342C>T (p.His114=) rs143730978 0.00019
NM_003001.5(SDHC):c.98C>T (p.Thr33Met) rs148566767 0.00007
NM_003001.5(SDHC):c.119G>A (p.Arg40Gln) rs772450693 0.00005
NM_003001.5(SDHC):c.450G>A (p.Gln150=) rs749159544 0.00005
NM_003001.5(SDHC):c.-3A>G rs373136782 0.00004
NM_003001.5(SDHC):c.118C>T (p.Arg40Trp) rs978019587 0.00004
NM_003001.5(SDHC):c.198G>A (p.Ala66=) rs763628960 0.00004
NM_003001.5(SDHC):c.282G>A (p.Gly94=) rs536197277 0.00004
NM_003001.5(SDHC):c.444A>C (p.Leu148=) rs377230417 0.00004
NM_003001.5(SDHC):c.490A>T (p.Met164Leu) rs200375156 0.00004
NM_003001.5(SDHC):c.166A>C (p.Ile56Leu) rs1363555121 0.00003
NM_003001.5(SDHC):c.377A>G (p.Tyr126Cys) rs898854295 0.00003
NM_003001.5(SDHC):c.461T>C (p.Val154Ala) rs1378160712 0.00003
NM_003001.5(SDHC):c.99G>A (p.Thr33=) rs145535502 0.00003
NM_003001.5(SDHC):c.99G>T (p.Thr33=) rs145535502 0.00003
NM_003001.5(SDHC):c.197C>T (p.Ala66Val) rs760572684 0.00002
NM_003001.5(SDHC):c.264G>A (p.Ser88=) rs1277488324 0.00002
NM_003001.5(SDHC):c.292T>G (p.Ser98Ala) rs371462564 0.00002
NM_003001.5(SDHC):c.31C>T (p.Arg11Cys) rs759914119 0.00002
NM_003001.5(SDHC):c.43C>T (p.Arg15Ter) rs201286421 0.00002
NM_003001.5(SDHC):c.489T>C (p.Ser163=) rs559747670 0.00002
NM_003001.5(SDHC):c.103A>G (p.Lys35Glu) rs746315913 0.00001
NM_003001.5(SDHC):c.114G>C (p.Met38Ile) rs868556406 0.00001
NM_003001.5(SDHC):c.116A>C (p.Glu39Ala) rs1060501388 0.00001
NM_003001.5(SDHC):c.11T>C (p.Leu4Pro) rs774299337 0.00001
NM_003001.5(SDHC):c.128A>G (p.Asn43Ser) rs747349777 0.00001
NM_003001.5(SDHC):c.148C>T (p.Arg50Cys) rs587778661 0.00001
NM_003001.5(SDHC):c.14T>C (p.Leu5Ser) rs1277411736 0.00001
NM_003001.5(SDHC):c.15G>T (p.Leu5Phe) rs771746264 0.00001
NM_003001.5(SDHC):c.1A>G (p.Met1Val) rs755235380 0.00001
NM_003001.5(SDHC):c.205A>G (p.Ile69Val) rs753561812 0.00001
NM_003001.5(SDHC):c.214C>T (p.Arg72Cys) rs756676111 0.00001
NM_003001.5(SDHC):c.215G>A (p.Arg72His) rs778582853 0.00001
NM_003001.5(SDHC):c.221C>T (p.Thr74Ile) rs1332910409 0.00001
NM_003001.5(SDHC):c.238G>A (p.Ala80Thr) rs149375851 0.00001
NM_003001.5(SDHC):c.23A>G (p.His8Arg) rs776123707 0.00001
NM_003001.5(SDHC):c.242G>T (p.Gly81Val) rs781756162 0.00001
NM_003001.5(SDHC):c.248C>G (p.Ser83Cys) rs1227520085 0.00001
NM_003001.5(SDHC):c.259A>C (p.Met87Leu) rs756382502 0.00001
NM_003001.5(SDHC):c.25G>A (p.Val9Ile) rs774768866 0.00001
NM_003001.5(SDHC):c.263C>T (p.Ser88Leu) rs778212096 0.00001
NM_003001.5(SDHC):c.268C>G (p.Leu90Val) rs771138203 0.00001
NM_003001.5(SDHC):c.295T>C (p.Tyr99His) rs760678574 0.00001
NM_003001.5(SDHC):c.309G>A (p.Val103=) rs768273090 0.00001
NM_003001.5(SDHC):c.326G>C (p.Gly109Ala) rs1571890248 0.00001
NM_003001.5(SDHC):c.339C>T (p.Ile113=) rs1047677628 0.00001
NM_003001.5(SDHC):c.358C>T (p.Leu120Phe) rs1161002093 0.00001
NM_003001.5(SDHC):c.370C>T (p.Leu124Phe) rs1571890420 0.00001
NM_003001.5(SDHC):c.372C>T (p.Leu124=) rs766007157 0.00001
NM_003001.5(SDHC):c.374T>G (p.Met125Arg) rs1060501387 0.00001
NM_003001.5(SDHC):c.380A>G (p.His127Arg) rs786203457 0.00001
NM_003001.5(SDHC):c.397C>T (p.Arg133Ter) rs764575966 0.00001
NM_003001.5(SDHC):c.405+1G>T rs587776653 0.00001
NM_003001.5(SDHC):c.40C>T (p.Leu14Phe) rs760986608 0.00001
NM_003001.5(SDHC):c.420A>G (p.Gly140=) rs794727791 0.00001
NM_003001.5(SDHC):c.42C>T (p.Leu14=) rs1331533952 0.00001
NM_003001.5(SDHC):c.431A>C (p.Lys144Thr) rs876659889 0.00001
NM_003001.5(SDHC):c.436C>A (p.Pro146Thr) rs541660851 0.00001
NM_003001.5(SDHC):c.476C>T (p.Thr159Ile) rs773923942 0.00001
NM_003001.5(SDHC):c.54T>G (p.Phe18Leu) rs200761743 0.00001
NM_003001.5(SDHC):c.5C>G (p.Ala2Gly) rs781337432 0.00001
NM_003001.5(SDHC):c.64C>T (p.Leu22Phe) rs1473438869 0.00001
NM_003001.5(SDHC):c.78-1G>A rs786202200 0.00001
NM_003001.5(SDHC):c.7G>A (p.Ala3Thr) rs748243732 0.00001
NM_003001.5(SDHC):c.82G>T (p.Val28Phe) rs754818119 0.00001
NM_003001.5(SDHC):c.85C>G (p.Pro29Ala) rs878854588 0.00001
NM_003001.5(SDHC):c.8C>T (p.Ala3Val) rs142139022 0.00001
NM_003001.5(SDHC):c.9G>A (p.Ala3=) rs749265569 0.00001
NM_003001.5(SDHC):c.-1G>A
NM_003001.5(SDHC):c.-4C>T rs1160334076
NM_003001.5(SDHC):c.-5C>A
NM_003001.5(SDHC):c.-5C>T
NM_003001.5(SDHC):c.102C>T (p.Ala34=) rs1571851493
NM_003001.5(SDHC):c.104A>G (p.Lys35Arg) rs1342764291
NM_003001.5(SDHC):c.108A>G (p.Glu36=) rs2102307691
NM_003001.5(SDHC):c.110A>T (p.Glu37Val) rs1671147192
NM_003001.5(SDHC):c.111G>A (p.Glu37=)
NM_003001.5(SDHC):c.116A>G (p.Glu39Gly)
NM_003001.5(SDHC):c.118del (p.Arg40fs)
NM_003001.5(SDHC):c.120G>C (p.Arg40=) rs36097930
NM_003001.5(SDHC):c.122T>C (p.Phe41Ser) rs1671152402
NM_003001.5(SDHC):c.127A>C (p.Asn43His) rs1553262439
NM_003001.5(SDHC):c.128A>T (p.Asn43Ile)
NM_003001.5(SDHC):c.12G>T (p.Leu4=) rs745443094
NM_003001.5(SDHC):c.132G>A (p.Lys44=) rs2102307834
NM_003001.5(SDHC):c.136A>G (p.Ile46Val) rs1558167321
NM_003001.5(SDHC):c.13T>A (p.Leu5Met) rs894925936
NM_003001.5(SDHC):c.140G>A (p.Gly47Asp)
NM_003001.5(SDHC):c.145A>G (p.Asn49Asp)
NM_003001.5(SDHC):c.146A>C (p.Asn49Thr) rs1571851610
NM_003001.5(SDHC):c.146A>T (p.Asn49Ile) rs1571851610
NM_003001.5(SDHC):c.149G>A (p.Arg50His) rs769177037
NM_003001.5(SDHC):c.156G>C (p.Leu52=) rs987490127
NM_003001.5(SDHC):c.160C>A (p.Pro54Thr) rs1553262444
NM_003001.5(SDHC):c.160C>T (p.Pro54Ser)
NM_003001.5(SDHC):c.161C>T (p.Pro54Leu)
NM_003001.5(SDHC):c.162C>A (p.Pro54=) rs374450282
NM_003001.5(SDHC):c.162C>T (p.Pro54=) rs374450282
NM_003001.5(SDHC):c.164A>G (p.His55Arg) rs878854585
NM_003001.5(SDHC):c.165C>T (p.His55=) rs786202080
NM_003001.5(SDHC):c.169A>G (p.Thr57Ala)
NM_003001.5(SDHC):c.171T>A (p.Thr57=)
NM_003001.5(SDHC):c.173T>C (p.Ile58Thr) rs999134407
NM_003001.5(SDHC):c.174C>A (p.Ile58=)
NM_003001.5(SDHC):c.176A>C (p.Tyr59Ser)
NM_003001.5(SDHC):c.177C>T (p.Tyr59=) rs1571851717
NM_003001.5(SDHC):c.179+1G>C rs1057517818
NM_003001.5(SDHC):c.179G>A (p.Ser60Asn) rs1179839529
NM_003001.5(SDHC):c.180-2A>G rs1363265634
NM_003001.5(SDHC):c.183G>C (p.Trp61Cys) rs1571869120
NM_003001.5(SDHC):c.185C>T (p.Ser62Phe)
NM_003001.5(SDHC):c.189T>G (p.Leu63=)
NM_003001.5(SDHC):c.191C>T (p.Pro64Leu) rs876658398
NM_003001.5(SDHC):c.193A>G (p.Met65Val) rs1060501392
NM_003001.5(SDHC):c.197_201delinsTCTCT (p.Ala66_Met67delinsValSer)
NM_003001.5(SDHC):c.20+4del rs2102271885
NM_003001.5(SDHC):c.200T>A (p.Met67Lys) rs1287584713
NM_003001.5(SDHC):c.200T>C (p.Met67Thr) rs1287584713
NM_003001.5(SDHC):c.202T>C (p.Ser68Pro) rs2102336180
NM_003001.5(SDHC):c.205A>C (p.Ile69Leu)
NM_003001.5(SDHC):c.206T>C (p.Ile69Thr)
NM_003001.5(SDHC):c.21-22_30dup
NM_003001.5(SDHC):c.21-2A>G rs1131691062
NM_003001.5(SDHC):c.214C>G (p.Arg72Gly)
NM_003001.5(SDHC):c.215G>T (p.Arg72Leu) rs778582853
NM_003001.5(SDHC):c.219C>T (p.Gly73=) rs752049668
NM_003001.5(SDHC):c.220A>G (p.Thr74Ala) rs1060501391
NM_003001.5(SDHC):c.222T>A (p.Thr74=)
NM_003001.5(SDHC):c.223G>C (p.Gly75Arg) rs867966048
NM_003001.5(SDHC):c.224G>A (p.Gly75Asp) rs786205147
NM_003001.5(SDHC):c.22C>A (p.His8Asn) rs746666691
NM_003001.5(SDHC):c.22C>T (p.His8Tyr) rs746666691
NM_003001.5(SDHC):c.233dup (p.Leu78fs) rs1571869304
NM_003001.5(SDHC):c.239C>T (p.Ala80Val)
NM_003001.5(SDHC):c.240A>G (p.Ala80=) rs1671687938
NM_003001.5(SDHC):c.241+1G>A rs748440817
NM_003001.5(SDHC):c.241+1G>T
NM_003001.5(SDHC):c.241+3A>G rs1413662099
NM_003001.5(SDHC):c.242-2A>G
NM_003001.5(SDHC):c.244G>T (p.Val82Phe) rs570325845
NM_003001.5(SDHC):c.247T>A (p.Ser83Thr)
NM_003001.5(SDHC):c.24C>A (p.His8Gln) rs761381438
NM_003001.5(SDHC):c.24C>T (p.His8=) rs761381438
NM_003001.5(SDHC):c.250C>A (p.Leu84Ile) rs942160050
NM_003001.5(SDHC):c.250C>T (p.Leu84Phe)
NM_003001.5(SDHC):c.250_251del (p.Leu84fs) rs2102370242
NM_003001.5(SDHC):c.250_253del (p.Phe85fs) rs1571889991
NM_003001.5(SDHC):c.251T>G (p.Leu84Arg) rs1672284764
NM_003001.5(SDHC):c.254T>G (p.Phe85Cys) rs1672284859
NM_003001.5(SDHC):c.255T>C (p.Phe85=) rs2102370353
NM_003001.5(SDHC):c.261G>A (p.Met87Ile)
NM_003001.5(SDHC):c.263C>G (p.Ser88Trp) rs778212096
NM_003001.5(SDHC):c.270G>A (p.Leu90=) rs1553265790
NM_003001.5(SDHC):c.276C>A (p.Leu92=)
NM_003001.5(SDHC):c.278C>T (p.Pro93Leu)
NM_003001.5(SDHC):c.280G>A (p.Gly94Arg)
NM_003001.5(SDHC):c.282G>T (p.Gly94=) rs536197277
NM_003001.5(SDHC):c.285C>T (p.Asn95=)
NM_003001.5(SDHC):c.287T>G (p.Phe96Cys)
NM_003001.5(SDHC):c.288T>C (p.Phe96=)
NM_003001.5(SDHC):c.292T>C (p.Ser98Pro)
NM_003001.5(SDHC):c.294T>C (p.Ser98=) rs376292127
NM_003001.5(SDHC):c.294T>G (p.Ser98=) rs376292127
NM_003001.5(SDHC):c.302A>G (p.Glu101Gly)
NM_003001.5(SDHC):c.30T>C (p.Gly10=) rs1170595036
NM_003001.5(SDHC):c.315C>T (p.Ser105=) rs2102370802
NM_003001.5(SDHC):c.317T>C (p.Leu106Pro)
NM_003001.5(SDHC):c.318G>A (p.Leu106=) rs1166833684
NM_003001.5(SDHC):c.322C>T (p.Leu108=) rs2102370841
NM_003001.5(SDHC):c.326G>A (p.Gly109Glu) rs1571890248
NM_003001.5(SDHC):c.32G>T (p.Arg11Leu) rs767802663
NM_003001.5(SDHC):c.331G>A (p.Ala111Thr)
NM_003001.5(SDHC):c.333A>G (p.Ala111=) rs950221552
NM_003001.5(SDHC):c.345A>G (p.Thr115=) rs2102371010
NM_003001.5(SDHC):c.349A>C (p.Lys117Gln)
NM_003001.5(SDHC):c.34C>G (p.His12Asp) rs1670923808
NM_003001.5(SDHC):c.351G>A (p.Lys117=) rs1571890344
NM_003001.5(SDHC):c.355G>A (p.Ala119Thr)
NM_003001.5(SDHC):c.356C>T (p.Ala119Val)
NM_003001.5(SDHC):c.358C>G (p.Leu120Val)
NM_003001.5(SDHC):c.359T>G (p.Leu120Arg) rs1672292051
NM_003001.5(SDHC):c.362T>C (p.Val121Ala)
NM_003001.5(SDHC):c.363C>T (p.Val121=) rs1273832397
NM_003001.5(SDHC):c.365T>G (p.Phe122Cys)
NM_003001.5(SDHC):c.367C>T (p.Pro123Ser) rs773039986
NM_003001.5(SDHC):c.370C>G (p.Leu124Val) rs1571890420
NM_003001.5(SDHC):c.372C>A (p.Leu124=) rs766007157
NM_003001.5(SDHC):c.376_391del (p.Tyr126fs) rs1553265817
NM_003001.5(SDHC):c.376dup (p.Tyr126fs) rs876658301
NM_003001.5(SDHC):c.379C>G (p.His127Asp) rs1485675090
NM_003001.5(SDHC):c.379C>T (p.His127Tyr) rs1485675090
NM_003001.5(SDHC):c.381T>C (p.His127=) rs867566924
NM_003001.5(SDHC):c.384C>T (p.Thr128=) rs1553265821
NM_003001.5(SDHC):c.387G>A (p.Trp129Ter) rs981049067
NM_003001.5(SDHC):c.389A>G (p.Asn130Ser)
NM_003001.5(SDHC):c.38G>C (p.Cys13Ser) rs1558164528
NM_003001.5(SDHC):c.390T>C (p.Asn130=) rs2102371399
NM_003001.5(SDHC):c.397C>A (p.Arg133=)
NM_003001.5(SDHC):c.399A>T (p.Arg133=)
NM_003001.5(SDHC):c.402C>T (p.His134=) rs754213041
NM_003001.5(SDHC):c.404T>C (p.Leu135Ser)
NM_003001.5(SDHC):c.405+1G>C rs587776653
NM_003001.5(SDHC):c.406-3C>T rs372490900
NM_003001.5(SDHC):c.406-5C>T rs1442391429
NM_003001.5(SDHC):c.409T>G (p.Trp137Gly)
NM_003001.5(SDHC):c.422A>G (p.Lys141Arg) rs1558185879
NM_003001.5(SDHC):c.423A>G (p.Lys141=) rs2102385065
NM_003001.5(SDHC):c.425G>A (p.Gly142Asp)
NM_003001.5(SDHC):c.425G>T (p.Gly142Val)
NM_003001.5(SDHC):c.434T>C (p.Ile145Thr) rs1553266487
NM_003001.5(SDHC):c.435T>G (p.Ile145Met)
NM_003001.5(SDHC):c.437C>T (p.Pro146Leu)
NM_003001.5(SDHC):c.438C>A (p.Pro146=) rs1418513098
NM_003001.5(SDHC):c.43C>G (p.Arg15Gly) rs201286421
NM_003001.5(SDHC):c.445T>C (p.Tyr149His) rs2102385345
NM_003001.5(SDHC):c.447C>T (p.Tyr149=)
NM_003001.5(SDHC):c.44G>A (p.Arg15Gln) rs1294873008
NM_003001.5(SDHC):c.451T>A (p.Ser151Thr)
NM_003001.5(SDHC):c.451T>C (p.Ser151Pro) rs1558185927
NM_003001.5(SDHC):c.452C>A (p.Ser151Tyr) rs1571899020
NM_003001.5(SDHC):c.452C>G (p.Ser151Cys)
NM_003001.5(SDHC):c.452_455delinsATGA (p.Ser151_Gly152delinsTyrGlu)
NM_003001.5(SDHC):c.454G>A (p.Gly152Arg) rs1558185932
NM_003001.5(SDHC):c.455G>A (p.Gly152Glu) rs1060501386
NM_003001.5(SDHC):c.455G>C (p.Gly152Ala)
NM_003001.5(SDHC):c.456A>C (p.Gly152=) rs886251473
NM_003001.5(SDHC):c.457G>A (p.Val153Met)
NM_003001.5(SDHC):c.459G>A (p.Val153=)
NM_003001.5(SDHC):c.45A>T (p.Arg15=) rs1007336839
NM_003001.5(SDHC):c.460G>C (p.Val154Leu)
NM_003001.5(SDHC):c.460del (p.Val154fs) rs786201665
NM_003001.5(SDHC):c.462T>C (p.Val154=) rs2102385569
NM_003001.5(SDHC):c.463G>C (p.Val155Leu)
NM_003001.5(SDHC):c.463G>T (p.Val155Phe)
NM_003001.5(SDHC):c.464T>C (p.Val155Ala) rs1672552536
NM_003001.5(SDHC):c.469G>A (p.Val157Ile)
NM_003001.5(SDHC):c.46G>A (p.Ala16Thr) rs878994954
NM_003001.5(SDHC):c.477T>A (p.Thr159=) rs759055559
NM_003001.5(SDHC):c.477T>C (p.Thr159=) rs759055559
NM_003001.5(SDHC):c.478G>A (p.Val160Met) rs1553266502
NM_003001.5(SDHC):c.483G>A (p.Leu161=)
NM_003001.5(SDHC):c.485C>G (p.Ser162Cys) rs1553266504
NM_003001.5(SDHC):c.486C>T (p.Ser162=) rs2102385816
NM_003001.5(SDHC):c.487T>C (p.Ser163Pro) rs1553266506
NM_003001.5(SDHC):c.488C>G (p.Ser163Cys)
NM_003001.5(SDHC):c.48C>G (p.Ala16=) rs1553261765
NM_003001.5(SDHC):c.490A>G (p.Met164Val) rs200375156
NM_003001.5(SDHC):c.495G>A (p.Gly165=) rs2102385878
NM_003001.5(SDHC):c.495G>C (p.Gly165=)
NM_003001.5(SDHC):c.496C>T (p.Leu166=) rs2102385898
NM_003001.5(SDHC):c.497T>G (p.Leu166Arg) rs1571899223
NM_003001.5(SDHC):c.4G>A (p.Ala2Thr) rs1198315342
NM_003001.5(SDHC):c.502G>A (p.Ala168Thr) rs1672554961
NM_003001.5(SDHC):c.504C>T (p.Ala168=) rs1571899229
NM_003001.5(SDHC):c.505A>G (p.Met169Val)
NM_003001.5(SDHC):c.506T>C (p.Met169Thr)
NM_003001.5(SDHC):c.50A>T (p.His17Leu) rs1571843720
NM_003001.5(SDHC):c.51C>A (p.His17Gln) rs1571843732
NM_003001.5(SDHC):c.58C>G (p.Pro20Ala)
NM_003001.5(SDHC):c.58C>T (p.Pro20Ser)
NM_003001.5(SDHC):c.59C>G (p.Pro20Arg) rs2102295625
NM_003001.5(SDHC):c.5C>T (p.Ala2Val)
NM_003001.5(SDHC):c.61C>G (p.Gln21Glu) rs1553261768
NM_003001.5(SDHC):c.66C>T (p.Leu22=) rs778965036
NM_003001.5(SDHC):c.68G>A (p.Cys23Tyr)
NM_003001.5(SDHC):c.6T>C (p.Ala2=) rs775353334
NM_003001.5(SDHC):c.6T>G (p.Ala2=) rs775353334
NM_003001.5(SDHC):c.6del (p.Ala3fs) rs786205146
NM_003001.5(SDHC):c.73A>G (p.Arg25Gly) rs878854587
NM_003001.5(SDHC):c.76A>G (p.Asn26Asp) rs1670928309
NM_003001.5(SDHC):c.77+1G>A rs1558164647
NM_003001.5(SDHC):c.77+2dup rs766486676
NM_003001.5(SDHC):c.77+5G>T rs1187087693
NM_003001.5(SDHC):c.78-1G>T rs786202200
NM_003001.5(SDHC):c.7G>T (p.Ala3Ser) rs748243732
NM_003001.5(SDHC):c.81T>C (p.Ala27=) rs876659297
NM_003001.5(SDHC):c.82G>A (p.Val28Ile) rs754818119
NM_003001.5(SDHC):c.94A>G (p.Thr32Ala) rs1457574786
NM_003001.5(SDHC):c.95C>A (p.Thr32Asn) rs1571851464
NM_003001.5(SDHC):c.97A>G (p.Thr33Ala) rs747828462
NM_003001.5(SDHC):c.97_98dup (p.Ala34fs)
NM_003001.5(SDHC):c.9G>T (p.Ala3=)

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