List of variants in gene HIBCH reported as likely pathogenic for amino acid metabolism disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 21

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HGVS	dbSNP	gnomAD frequency
NM_014362.4(HIBCH):c.353T>C (p.Phe118Ser)	rs758938066	0.00002
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys)	rs121918329	0.00001
NM_014362.4(HIBCH):c.891+1G>A	rs915412371	0.00001
NM_014362.4(HIBCH):c.1128dup (p.Lys377Ter)	rs863225062
NM_014362.4(HIBCH):c.212A>C (p.Gln71Pro)	rs1553506164
NM_014362.4(HIBCH):c.385+2T>A	rs2105985080
NM_014362.4(HIBCH):c.386-1G>C	rs1203170244
NM_014362.4(HIBCH):c.410C>T (p.Ala137Val)	rs1114167288
NM_014362.4(HIBCH):c.439-1G>A	rs2105952039
NM_014362.4(HIBCH):c.439-2A>G	rs1180861300
NM_014362.4(HIBCH):c.457C>T (p.His153Tyr)	rs752450856
NM_014362.4(HIBCH):c.488G>T (p.Cys163Phe)	rs74832989
NM_014362.4(HIBCH):c.556C>T (p.Arg186Ter)
NM_014362.4(HIBCH):c.664-2A>G
NM_014362.4(HIBCH):c.760_761delinsAT (p.Asp254Ile)
NM_014362.4(HIBCH):c.777T>A (p.Phe259Leu)	rs759563092
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
NM_014362.4(HIBCH):c.860A>G (p.Asp287Gly)
NM_014362.4(HIBCH):c.950G>A (p.Gly317Glu)	rs786204004

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