List of variants in gene HEXA reported as likely benign by Ambry 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: 17

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HGVS	dbSNP	gnomAD frequency
NM_000520.6(HEXA):c.759G>A (p.Val253=)	rs117513345	0.00412
NM_000520.6(HEXA):c.69C>G (p.Leu23=)	rs143554538	0.00107
NM_000520.6(HEXA):c.1107C>T (p.Gly369=)	rs140337137	0.00096
NM_000520.6(HEXA):c.1338T>C (p.Pro446=)	rs34085965	0.00029
NM_000520.6(HEXA):c.1216C>T (p.Leu406=)	rs140482769	0.00017
NM_000520.6(HEXA):c.517C>T (p.Leu173=)	rs200743199	0.00017
NM_000520.6(HEXA):c.840G>A (p.Gly280=)	rs778823870	0.00004
NM_000520.6(HEXA):c.1230C>T (p.Ala410=)	rs751185874	0.00002
NM_000520.6(HEXA):c.906C>T (p.Ser302=)	rs765612435	0.00002
NM_000520.6(HEXA):c.1086C>T (p.Ile362=)	rs749828204	0.00001
NM_000520.6(HEXA):c.168C>T (p.Pro56=)	rs777515618	0.00001
NM_000520.6(HEXA):c.357C>T (p.Thr119=)	rs1242269336	0.00001
NM_000520.6(HEXA):c.912C>T (p.Phe304=)	rs1385655581	0.00001
NM_000520.6(HEXA):c.1317C>G (p.Pro439=)	rs1003506073
NM_000520.6(HEXA):c.1470A>G (p.Thr490=)	rs2542509762
NM_000520.6(HEXA):c.261G>A (p.Arg87=)	rs1298623340
NM_000520.6(HEXA):c.495C>T (p.Pro165=)	rs1447087928

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