ClinVar Miner

List of variants in gene HIBCH studied for classic organic aciduria

Included ClinVar conditions (39):
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Total variants: 45
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HGVS dbSNP
NM_014362.4(HIBCH):c.1033G>A (p.Gly345Ser) rs770114459
NM_014362.4(HIBCH):c.1038T>A (p.Val346=) rs13406709
NM_014362.4(HIBCH):c.1048T>C (p.Leu350=) rs1575690645
NM_014362.4(HIBCH):c.1053T>G (p.Ile351Met) rs1575690635
NM_014362.4(HIBCH):c.1128dup (p.Lys377Ter) rs863225062
NM_014362.4(HIBCH):c.129dup (p.Gly44fs) rs767597690
NM_014362.4(HIBCH):c.136A>G (p.Thr46Ala) rs1058180
NM_014362.4(HIBCH):c.182C>T (p.Thr61Ile) rs1575757363
NM_014362.4(HIBCH):c.196C>T (p.Arg66Trp) rs757976755
NM_014362.4(HIBCH):c.212A>C (p.Gln71Pro) rs1553506164
NM_014362.4(HIBCH):c.214C>T (p.Leu72=) rs149479887
NM_014362.4(HIBCH):c.220-9T>G rs786200864
NM_014362.4(HIBCH):c.226G>A (p.Glu76Lys)
NM_014362.4(HIBCH):c.238G>C (p.Glu80Gln) rs200185893
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.35+10A>C rs747167987
NM_014362.4(HIBCH):c.353T>C (p.Phe118Ser)
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys) rs121918329
NM_014362.4(HIBCH):c.385+11del rs374891270
NM_014362.4(HIBCH):c.410C>T (p.Ala137Val) rs1114167288
NM_014362.4(HIBCH):c.428C>A (p.Thr143Lys)
NM_014362.4(HIBCH):c.438+9A>T rs201813923
NM_014362.4(HIBCH):c.439-2A>G
NM_014362.4(HIBCH):c.457C>T (p.His153Tyr)
NM_014362.4(HIBCH):c.488G>C (p.Cys163Ser) rs74832989
NM_014362.4(HIBCH):c.517+15T>A rs291417
NM_014362.4(HIBCH):c.517+1G>A rs1021805910
NM_014362.4(HIBCH):c.529G>C (p.Asp177His)
NM_014362.4(HIBCH):c.609del (p.Gly204fs) rs776592661
NM_014362.4(HIBCH):c.632G>T (p.Gly211Val)
NM_014362.4(HIBCH):c.735A>C (p.Glu245Asp) rs61752508
NM_014362.4(HIBCH):c.763C>G (p.Arg255Gly)
NM_014362.4(HIBCH):c.763C>T (p.Arg255Ter)
NM_014362.4(HIBCH):c.79-3C>G rs778922921
NM_014362.4(HIBCH):c.79-7T>C rs201950316
NM_014362.4(HIBCH):c.790C>T (p.His264Tyr)
NM_014362.4(HIBCH):c.794T>C (p.Met265Thr) rs201049927
NM_014362.4(HIBCH):c.796G>A (p.Asp266Asn) rs144053672
NM_014362.4(HIBCH):c.809+1G>A rs143746450
NM_014362.4(HIBCH):c.830T>A (p.Val277Glu) rs1553499757
NM_014362.4(HIBCH):c.835G>T (p.Glu279Ter)
NM_014362.4(HIBCH):c.852del (p.Leu284fs) rs1131692017
NM_014362.4(HIBCH):c.950G>A (p.Gly317Glu) rs786204004
NM_014362.4(HIBCH):c.957A>G (p.Ser319=) rs3213841

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