ClinVar Miner

List of variants reported as likely benign for Beta-hydroxyisobutyryl-CoA deacylase deficiency

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_014362.4(HIBCH):c.796G>A (p.Asp266Asn) rs144053672 0.00316
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.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.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.438+11T>G rs1414998551 0.00002
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.428C>A (p.Thr143Lys) rs754178179 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
NM_014362.4(HIBCH):c.1011+10dup
NM_014362.4(HIBCH):c.1012-16C>G
NM_014362.4(HIBCH):c.1012-19A>T
NM_014362.4(HIBCH):c.1048T>C (p.Leu350=) rs1575690645
NM_014362.4(HIBCH):c.1149T>C (p.Asp383=)
NM_014362.4(HIBCH):c.150A>G (p.Thr50=)
NM_014362.4(HIBCH):c.219+16A>G rs2105992508
NM_014362.4(HIBCH):c.304+9T>G
NM_014362.4(HIBCH):c.305-5C>T
NM_014362.4(HIBCH):c.517+16T>C
NM_014362.4(HIBCH):c.518-12A>G
NM_014362.4(HIBCH):c.60T>C (p.Asn20=)
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.664-18T>C
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.810-4A>G
NM_014362.4(HIBCH):c.831G>A (p.Val277=)
NM_014362.4(HIBCH):c.891+16T>C
NM_014362.4(HIBCH):c.891+18T>C rs959638999
NM_014362.4(HIBCH):c.951G>T (p.Gly317=)
NM_014362.4(HIBCH):c.963C>G (p.Thr321=)

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