ClinVar Miner

List of variants studied for 3-hydroxyisobutyryl-CoA hydrolase deficiency

Included ClinVar conditions (1):
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Total variants: 146
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HGVS dbSNP gnomAD frequency
NM_014362.4(HIBCH):c.136A>G (p.Thr46Ala) rs1058180 0.72415
NM_014362.4(HIBCH):c.2T>C (p.Met1Thr) rs291466 0.52671
NM_014362.4(HIBCH):c.517+15T>A rs291417 0.02472
NM_014362.4(HIBCH):c.488G>C (p.Cys163Ser) rs74832989 0.01849
NM_014362.4(HIBCH):c.735A>C (p.Glu245Asp) rs61752508 0.01780
NM_014362.4(HIBCH):c.1038T>A (p.Val346=) rs13406709 0.00643
NM_014362.4(HIBCH):c.663+19G>T rs75352449 0.00485
NM_014362.4(HIBCH):c.796G>A (p.Asp266Asn) rs144053672 0.00316
NM_014362.4(HIBCH):c.214C>T (p.Leu72=) rs149479887 0.00238
NM_014362.4(HIBCH):c.243T>G (p.Thr81=) rs144074606 0.00226
NM_014362.4(HIBCH):c.438+9A>T rs201813923 0.00078
NM_014362.4(HIBCH):c.36-13A>T rs199859881 0.00064
NM_014362.4(HIBCH):c.957A>G (p.Ser319=) rs3213841 0.00028
NM_014362.4(HIBCH):c.1011+11A>T rs550386327 0.00014
NM_014362.4(HIBCH):c.794T>C (p.Met265Thr) rs201049927 0.00012
NM_014362.4(HIBCH):c.438+19C>G rs919531257 0.00011
NM_014362.4(HIBCH):c.79-7T>C rs201950316 0.00011
NM_014362.4(HIBCH):c.885A>G (p.Gln295=) rs778683855 0.00011
NM_014362.4(HIBCH):c.1036G>A (p.Val346Ile) rs367938014 0.00009
NM_014362.4(HIBCH):c.238G>C (p.Glu80Gln) rs200185893 0.00008
NM_014362.4(HIBCH):c.312G>A (p.Ser104=) rs201502204 0.00006
NM_014362.4(HIBCH):c.35+10A>C rs747167987 0.00006
NM_014362.4(HIBCH):c.550T>C (p.Leu184=) rs777785491 0.00004
NM_014362.4(HIBCH):c.226G>A (p.Glu76Lys) rs778434126 0.00002
NM_014362.4(HIBCH):c.353T>C (p.Phe118Ser) rs758938066 0.00002
NM_014362.4(HIBCH):c.438+11T>G rs1414998551 0.00002
NM_014362.4(HIBCH):c.1103C>T (p.Thr368Ile) rs142607404 0.00001
NM_014362.4(HIBCH):c.145A>G (p.Ile49Val) rs1370340054 0.00001
NM_014362.4(HIBCH):c.153A>G (p.Leu51=) rs768948062 0.00001
NM_014362.4(HIBCH):c.196C>A (p.Arg66=) rs757976755 0.00001
NM_014362.4(HIBCH):c.196C>T (p.Arg66Trp) rs757976755 0.00001
NM_014362.4(HIBCH):c.220-9T>G rs786200864 0.00001
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys) rs121918329 0.00001
NM_014362.4(HIBCH):c.428C>A (p.Thr143Lys) rs754178179 0.00001
NM_014362.4(HIBCH):c.517+1G>A rs1021805910 0.00001
NM_014362.4(HIBCH):c.763C>T (p.Arg255Ter) rs1248460683 0.00001
NM_014362.4(HIBCH):c.79-3C>G rs778922921 0.00001
NM_014362.4(HIBCH):c.790C>T (p.His264Tyr) rs1280144449 0.00001
NM_014362.4(HIBCH):c.891+1G>A rs915412371 0.00001
NM_014362.4(HIBCH):c.892-18A>C rs113980003 0.00001
NM_014362.4(HIBCH):c.897T>C (p.Ile299=) rs763947247 0.00001
HIBCH, 1-BP DEL, 852A
HIBCH, CYS163PHE
NC_000002.12:g.190246209_190246214del rs1686603593
NM_004208.4(AIFM1):c.1084A>C (p.Lys362Gln)
NM_014362.4(HIBCH):c.1000C>T (p.Gln334Ter)
NM_014362.4(HIBCH):c.1004C>T (p.Ala335Val)
NM_014362.4(HIBCH):c.1010_1011+3del
NM_014362.4(HIBCH):c.1011+10dup
NM_014362.4(HIBCH):c.1011+20del rs144660628
NM_014362.4(HIBCH):c.1012-10T>G rs1246020574
NM_014362.4(HIBCH):c.1012-16C>G
NM_014362.4(HIBCH):c.1012-19A>T
NM_014362.4(HIBCH):c.1012A>T (p.Arg338Ter) rs1364971527
NM_014362.4(HIBCH):c.1024T>C (p.Phe342Leu)
NM_014362.4(HIBCH):c.1028A>T (p.His343Leu)
NM_014362.4(HIBCH):c.1033G>A (p.Gly345Ser) rs770114459
NM_014362.4(HIBCH):c.1034G>T (p.Gly345Val) rs1260531370
NM_014362.4(HIBCH):c.1035C>T (p.Gly345=)
NM_014362.4(HIBCH):c.1045G>C (p.Val349Leu)
NM_014362.4(HIBCH):c.1048T>C (p.Leu350=) rs1575690645
NM_014362.4(HIBCH):c.1053T>G (p.Ile351Met) rs1575690635
NM_014362.4(HIBCH):c.1084G>A (p.Ala362Thr)
NM_014362.4(HIBCH):c.1128del (p.Phe376fs) rs863225062
NM_014362.4(HIBCH):c.1128dup (p.Lys377Ter) rs863225062
NM_014362.4(HIBCH):c.1139G>A (p.Gly380Glu)
NM_014362.4(HIBCH):c.1149T>C (p.Asp383=)
NM_014362.4(HIBCH):c.11G>T (p.Arg4Leu) rs749741622
NM_014362.4(HIBCH):c.125A>G (p.Lys42Arg)
NM_014362.4(HIBCH):c.129dup (p.Gly44fs) rs767597690
NM_014362.4(HIBCH):c.150A>G (p.Thr50=)
NM_014362.4(HIBCH):c.175G>T (p.Ala59Ser)
NM_014362.4(HIBCH):c.182C>T (p.Thr61Ile) rs1575757363
NM_014362.4(HIBCH):c.212A>C (p.Gln71Pro) rs1553506164
NM_014362.4(HIBCH):c.219+16A>G rs2105992508
NM_014362.4(HIBCH):c.219G>A (p.Lys73=)
NM_014362.4(HIBCH):c.222G>A (p.Lys74=)
NM_014362.4(HIBCH):c.253A>T (p.Ile85Phe)
NM_014362.4(HIBCH):c.284G>C (p.Cys95Ser) rs2105990079
NM_014362.4(HIBCH):c.288C>T (p.Ala96=)
NM_014362.4(HIBCH):c.304+9T>G
NM_014362.4(HIBCH):c.305-5C>T
NM_014362.4(HIBCH):c.311C>T (p.Ser104Leu)
NM_014362.4(HIBCH):c.324G>T (p.Lys108Asn)
NM_014362.4(HIBCH):c.35+8AG[2] rs754126815
NM_014362.4(HIBCH):c.35G>A (p.Arg12Lys)
NM_014362.4(HIBCH):c.385+11del rs374891270
NM_014362.4(HIBCH):c.385+2T>A rs2105985080
NM_014362.4(HIBCH):c.386-1G>C rs1203170244
NM_014362.4(HIBCH):c.410C>T (p.Ala137Val) rs1114167288
NM_014362.4(HIBCH):c.438+4A>G
NM_014362.4(HIBCH):c.439-1G>A rs2105952039
NM_014362.4(HIBCH):c.439-2A>G rs1180861300
NM_014362.4(HIBCH):c.457C>T (p.His153Tyr) rs752450856
NM_014362.4(HIBCH):c.469C>T (p.Arg157Ter)
NM_014362.4(HIBCH):c.488G>T (p.Cys163Phe) rs74832989
NM_014362.4(HIBCH):c.4G>A (p.Gly2Arg) rs1341440380
NM_014362.4(HIBCH):c.517+16T>C
NM_014362.4(HIBCH):c.518-12A>G
NM_014362.4(HIBCH):c.529G>C (p.Asp177His) rs1315908015
NM_014362.4(HIBCH):c.556C>T (p.Arg186Ter)
NM_014362.4(HIBCH):c.56C>G (p.Thr19Ser)
NM_014362.4(HIBCH):c.594A>T (p.Thr198=)
NM_014362.4(HIBCH):c.609del (p.Gly204fs) rs776592661
NM_014362.4(HIBCH):c.60T>C (p.Asn20=)
NM_014362.4(HIBCH):c.616G>A (p.Asp206Asn)
NM_014362.4(HIBCH):c.632G>T (p.Gly211Val) rs1210193670
NM_014362.4(HIBCH):c.663+13A>G
NM_014362.4(HIBCH):c.663+14T>G
NM_014362.4(HIBCH):c.664-16del
NM_014362.4(HIBCH):c.664-18T>C
NM_014362.4(HIBCH):c.664-2A>G
NM_014362.4(HIBCH):c.68T>A (p.Leu23Gln)
NM_014362.4(HIBCH):c.692C>T (p.Ala231Val)
NM_014362.4(HIBCH):c.712G>A (p.Glu238Lys)
NM_014362.4(HIBCH):c.716A>G (p.Asn239Ser)
NM_014362.4(HIBCH):c.751-4A>G
NM_014362.4(HIBCH):c.751-5_751-2del
NM_014362.4(HIBCH):c.760_761delinsAT (p.Asp254Ile)
NM_014362.4(HIBCH):c.763C>G (p.Arg255Gly) rs1248460683
NM_014362.4(HIBCH):c.777T>A (p.Phe259Leu) rs759563092
NM_014362.4(HIBCH):c.78+17G>A
NM_014362.4(HIBCH):c.783T>G (p.Leu261=) rs2105934861
NM_014362.4(HIBCH):c.79-4A>T
NM_014362.4(HIBCH):c.79-9T>C
NM_014362.4(HIBCH):c.798C>T (p.Asp266=) rs2105934821
NM_014362.4(HIBCH):c.809+19C>T rs1249772787
NM_014362.4(HIBCH):c.809+1G>A rs143746450
NM_014362.4(HIBCH):c.810-4A>G
NM_014362.4(HIBCH):c.830T>A (p.Val277Glu) rs1553499757
NM_014362.4(HIBCH):c.831G>A (p.Val277=)
NM_014362.4(HIBCH):c.832G>A (p.Glu278Lys)
NM_014362.4(HIBCH):c.835G>T (p.Glu279Ter) rs1686562488
NM_014362.4(HIBCH):c.852del (p.Leu284fs) rs1131692017
NM_014362.4(HIBCH):c.860A>G (p.Asp287Gly)
NM_014362.4(HIBCH):c.863G>C (p.Gly288Ala)
NM_014362.4(HIBCH):c.891+16T>C
NM_014362.4(HIBCH):c.891+18T>C rs959638999
NM_014362.4(HIBCH):c.925A>G (p.Ile309Val)
NM_014362.4(HIBCH):c.932T>G (p.Leu311Arg)
NM_014362.4(HIBCH):c.945G>A (p.Met315Ile)
NM_014362.4(HIBCH):c.950G>A (p.Gly317Glu) rs786204004
NM_014362.4(HIBCH):c.951G>T (p.Gly317=)
NM_014362.4(HIBCH):c.958A>G (p.Lys320Glu)
NM_014362.4(HIBCH):c.963C>G (p.Thr321=)
NM_014362.4(HIBCH):c.974T>G (p.Val325Gly) rs751484433

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