ClinVar Miner

List of variants in gene HIBCH reported as likely pathogenic for classic organic aciduria

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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NM_014362.4(HIBCH):c.1128dup (p.Lys377Ter) rs863225062
NM_014362.4(HIBCH):c.212A>C (p.Gln71Pro) rs1553506164
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys) rs121918329
NM_014362.4(HIBCH):c.410C>T (p.Ala137Val) rs1114167288
NM_014362.4(HIBCH):c.457C>T (p.His153Tyr)
NM_014362.4(HIBCH):c.809+1G>A rs143746450
NM_014362.4(HIBCH):c.830T>A (p.Val277Glu) rs1553499757
NM_014362.4(HIBCH):c.852del (p.Leu284fs) rs1131692017

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