List of variants in gene HEXB reported as uncertain significance by GeneDx

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_000521.4(HEXB):c.715G>A (p.Val239Ile)	rs145056714	0.00051
NM_000521.4(HEXB):c.1667T>C (p.Met556Thr)	rs140627230	0.00016
NM_000521.4(HEXB):c.130C>T (p.Arg44Trp)	rs750001501	0.00012
NM_000521.4(HEXB):c.1367A>C (p.Tyr456Ser)	rs121907982	0.00004
NM_000521.4(HEXB):c.187G>A (p.Val63Met)	rs776211390	0.00003
NM_000521.4(HEXB):c.1614-16_1622dup	rs756912360	0.00001
NM_000521.4(HEXB):c.838T>A (p.Leu280Ile)	rs1057518432	0.00001
NM_000521.4(HEXB):c.1085A>C (p.Glu362Ala)
NM_000521.4(HEXB):c.1340C>T (p.Ala447Val)
NM_000521.4(HEXB):c.1630C>A (p.Gln544Lys)	rs766477016

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