List of variants in gene HIBCH reported as pathogenic for 3-hydroxyisobutyryl-CoA hydrolase deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 20

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HGVS	dbSNP	gnomAD frequency
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.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.1000C>T (p.Gln334Ter)
NM_014362.4(HIBCH):c.1010_1011+3del
NM_014362.4(HIBCH):c.1012A>T (p.Arg338Ter)	rs1364971527
NM_014362.4(HIBCH):c.1033G>A (p.Gly345Ser)	rs770114459
NM_014362.4(HIBCH):c.1128dup (p.Lys377Ter)	rs863225062
NM_014362.4(HIBCH):c.129dup (p.Gly44fs)	rs767597690
NM_014362.4(HIBCH):c.386-1G>C	rs1203170244
NM_014362.4(HIBCH):c.410C>T (p.Ala137Val)	rs1114167288
NM_014362.4(HIBCH):c.469C>T (p.Arg157Ter)
NM_014362.4(HIBCH):c.488G>T (p.Cys163Phe)	rs74832989
NM_014362.4(HIBCH):c.609del (p.Gly204fs)	rs776592661
NM_014362.4(HIBCH):c.835G>T (p.Glu279Ter)	rs1686562488
NM_014362.4(HIBCH):c.852del (p.Leu284fs)	rs1131692017
NM_014362.4(HIBCH):c.950G>A (p.Gly317Glu)	rs786204004

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