List of variants in gene HEXB 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_000521.4(HEXB):c.1417+5G>A	rs763517499	0.00002
NM_000521.4(HEXB):c.1417G>A (p.Gly473Ser)	rs762892362	0.00001
NM_000521.4(HEXB):c.1509-26G>A	rs201580118
NM_000521.4(HEXB):c.1586T>G (p.Leu529Arg)	rs745454291

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