List of variants in gene HMBS reported as likely pathogenic by Mayo Clinic Laboratories, Mayo Clinic

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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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.601C>T (p.Arg201Trp)	rs118204109	0.00004
NM_000190.4(HMBS):c.71G>A (p.Gly24Asp)	rs2497421927
NM_000190.4(HMBS):c.754G>C (p.Ala252Pro)	rs118204113
NM_000190.4(HMBS):c.85del (p.Gln29fs)
NM_000190.4(HMBS):c.866_869del (p.Asp289fs)	rs2134883951
NM_000190.4(HMBS):c.940_941del (p.Gln314fs)	rs1407093112

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