List of variants in gene HEXA reported as pathogenic by Fulgent Genetics, Fulgent Genetics

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_000520.6(HEXA):c.1073+1G>A	rs76173977	0.00021
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser)	rs121907954	0.00015
NM_000520.6(HEXA):c.459+5G>A	rs762060470	0.00009
NM_000520.6(HEXA):c.533G>A (p.Arg178His)	rs28941770	0.00005
NM_000520.6(HEXA):c.409C>T (p.Arg137Ter)	rs121907962	0.00004
NM_000520.6(HEXA):c.1421+1G>C	rs147324677	0.00002
NM_000520.6(HEXA):c.805+1G>C	rs121907980	0.00001
NM_000520.6(HEXA):c.805+1G>A	rs121907980
NM_000520.6(HEXA):c.929_930del (p.Ser310fs)	rs751248523

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