List of variants in gene HEXA reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_000520.6(HEXA):c.459+5G>A	rs762060470	0.00009
NM_000520.6(HEXA):c.1302C>G (p.Phe434Leu)	rs202173526	0.00002
NM_000520.6(HEXA):c.590A>C (p.Lys197Thr)	rs121907973
NM_000520.6(HEXA):c.611A>G (p.His204Arg)	rs121907976

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