ClinVar Miner

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

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_014362.4(HIBCH):c.1038T>A (p.Val346=) rs13406709
NM_014362.4(HIBCH):c.136A>G (p.Thr46Ala) rs1058180
NM_014362.4(HIBCH):c.214C>T (p.Leu72=) rs149479887
NM_014362.4(HIBCH):c.243T>G (p.Thr81=) rs144074606
NM_014362.4(HIBCH):c.2T>C (p.Met1Thr) rs291466
NM_014362.4(HIBCH):c.385+11del rs374891270
NM_014362.4(HIBCH):c.438+9A>T rs201813923
NM_014362.4(HIBCH):c.488G>C (p.Cys163Ser) rs74832989
NM_014362.4(HIBCH):c.517+15T>A rs291417
NM_014362.4(HIBCH):c.735A>C (p.Glu245Asp) rs61752508
NM_014362.4(HIBCH):c.957A>G (p.Ser319=) rs3213841

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