ClinVar Miner

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

Included ClinVar conditions (1):
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Total variants: 10
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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.79-3C>G rs778922921 0.00001
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.488G>T (p.Cys163Phe) rs74832989
NM_014362.4(HIBCH):c.852del (p.Leu284fs) rs1131692017
NM_014362.4(HIBCH):c.950G>A (p.Gly317Glu) rs786204004

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