ClinVar Miner

List of variants reported as uncertain significance for 3-hydroxyisobutyryl-CoA hydrolase deficiency

Included ClinVar conditions (1):
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Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_014362.4(HIBCH):c.794T>C (p.Met265Thr) rs201049927 0.00012
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.226G>A (p.Glu76Lys) rs778434126 0.00002
NM_014362.4(HIBCH):c.353T>C (p.Phe118Ser) rs758938066 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.365A>G (p.Tyr122Cys) rs121918329 0.00001
NM_014362.4(HIBCH):c.790C>T (p.His264Tyr) rs1280144449 0.00001
NC_000002.12:g.190246209_190246214del rs1686603593
NM_004208.4(AIFM1):c.1084A>C (p.Lys362Gln)
NM_014362.4(HIBCH):c.1004C>T (p.Ala335Val)
NM_014362.4(HIBCH):c.1012-10T>G rs1246020574
NM_014362.4(HIBCH):c.1024T>C (p.Phe342Leu)
NM_014362.4(HIBCH):c.1028A>T (p.His343Leu)
NM_014362.4(HIBCH):c.1034G>T (p.Gly345Val) rs1260531370
NM_014362.4(HIBCH):c.1045G>C (p.Val349Leu)
NM_014362.4(HIBCH):c.1053T>G (p.Ile351Met) rs1575690635
NM_014362.4(HIBCH):c.1070C>A (p.Pro357Gln)
NM_014362.4(HIBCH):c.1084G>A (p.Ala362Thr)
NM_014362.4(HIBCH):c.1128del (p.Phe376fs) rs863225062
NM_014362.4(HIBCH):c.1139G>A (p.Gly380Glu)
NM_014362.4(HIBCH):c.11G>T (p.Arg4Leu) rs749741622
NM_014362.4(HIBCH):c.125A>G (p.Lys42Arg)
NM_014362.4(HIBCH):c.175G>T (p.Ala59Ser)
NM_014362.4(HIBCH):c.182C>T (p.Thr61Ile) rs1575757363
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.311C>T (p.Ser104Leu)
NM_014362.4(HIBCH):c.324G>T (p.Lys108Asn)
NM_014362.4(HIBCH):c.35G>A (p.Arg12Lys)
NM_014362.4(HIBCH):c.410C>T (p.Ala137Val) rs1114167288
NM_014362.4(HIBCH):c.420T>A (p.His140Gln)
NM_014362.4(HIBCH):c.438+4A>G
NM_014362.4(HIBCH):c.439-2A>G rs1180861300
NM_014362.4(HIBCH):c.4G>A (p.Gly2Arg) rs1341440380
NM_014362.4(HIBCH):c.529G>C (p.Asp177His) rs1315908015
NM_014362.4(HIBCH):c.56C>G (p.Thr19Ser)
NM_014362.4(HIBCH):c.594A>T (p.Thr198=)
NM_014362.4(HIBCH):c.616G>A (p.Asp206Asn)
NM_014362.4(HIBCH):c.644A>G (p.His215Arg)
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.763C>G (p.Arg255Gly) rs1248460683
NM_014362.4(HIBCH):c.832G>A (p.Glu278Lys)
NM_014362.4(HIBCH):c.863G>C (p.Gly288Ala)
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.958A>G (p.Lys320Glu)
NM_014362.4(HIBCH):c.974T>G (p.Val325Gly) rs751484433

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