List of variants in gene HMBS studied for encephalopathy, porphyria-related

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000190.4(HMBS):c.500G>A (p.Arg167Gln)	rs118204095	0.00006
NM_000190.4(HMBS):c.499C>T (p.Arg167Trp)	rs118204101	0.00004
NM_000190.4(HMBS):c.601C>T (p.Arg201Trp)	rs118204109	0.00004
NM_000190.4(HMBS):c.242T>C (p.Leu81Pro)	rs118204119
NM_000190.4(HMBS):c.518G>A (p.Arg173Gln)	rs118204096

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