ClinVar Miner

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

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_014362.4(HIBCH):c.1048T>C (p.Leu350=) rs1575690645
NM_014362.4(HIBCH):c.35+10A>C rs747167987
NM_014362.4(HIBCH):c.428C>A (p.Thr143Lys)
NM_014362.4(HIBCH):c.632G>T (p.Gly211Val)
NM_014362.4(HIBCH):c.79-7T>C rs201950316
NM_014362.4(HIBCH):c.796G>A (p.Asp266Asn) rs144053672

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