List of variants in gene HEXA reported as uncertain significance 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: 33

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HGVS	dbSNP	gnomAD frequency
NM_000520.6(HEXA):c.1416G>C (p.Arg472Ser)	rs369117208	0.00011
NM_000520.6(HEXA):c.581C>T (p.Ala194Val)	rs778947516	0.00010
NM_000520.6(HEXA):c.836C>G (p.Ser279Cys)	rs148199798	0.00010
NM_000520.6(HEXA):c.104A>C (p.Gln35Pro)	rs140868947	0.00005
NM_000520.6(HEXA):c.1166T>C (p.Ile389Thr)	rs146714642	0.00003
NM_000520.6(HEXA):c.1487C>G (p.Ala496Gly)	rs373781108	0.00003
NM_000520.6(HEXA):c.496C>T (p.Arg166Cys)	rs759487463	0.00003
NM_000520.6(HEXA):c.1165A>G (p.Ile389Val)	rs777212186	0.00001
NM_000520.6(HEXA):c.1196A>G (p.Asn399Ser)	rs755973971	0.00001
NM_000520.6(HEXA):c.1253C>G (p.Ala418Gly)	rs201471936	0.00001
NM_000520.6(HEXA):c.1337C>T (p.Pro446Leu)	rs939203533	0.00001
NM_000520.6(HEXA):c.214C>T (p.Leu72Phe)	rs2542581342	0.00001
NM_000520.6(HEXA):c.345T>G (p.Asn115Lys)	rs774220090	0.00001
NM_000520.6(HEXA):c.598G>A (p.Val200Met)	rs1800429	0.00001
NM_000520.6(HEXA):c.859T>C (p.Phe287Leu)	rs2088663016	0.00001
NM_000520.6(HEXA):c.115C>T (p.Leu39Phe)	rs1297033183
NM_000520.6(HEXA):c.1297G>A (p.Asp433Asn)	rs2088616893
NM_000520.6(HEXA):c.1396A>G (p.Asn466Asp)	rs2542512612
NM_000520.6(HEXA):c.13A>G (p.Arg5Gly)	rs1595816387
NM_000520.6(HEXA):c.1442C>T (p.Ala481Val)
NM_000520.6(HEXA):c.184G>T (p.Asp62Tyr)	rs1305641242
NM_000520.6(HEXA):c.210C>G (p.Asp70Glu)	rs1377654671
NM_000520.6(HEXA):c.227G>C (p.Gly76Ala)	rs2089055615
NM_000520.6(HEXA):c.293C>T (p.Ser98Phe)
NM_000520.6(HEXA):c.397T>C (p.Trp133Arg)
NM_000520.6(HEXA):c.422C>G (p.Thr141Ser)	rs754367847
NM_000520.6(HEXA):c.428G>A (p.Ser143Asn)
NM_000520.6(HEXA):c.458C>A (p.Thr153Lys)	rs767677756
NM_000520.6(HEXA):c.471C>A (p.Asn157Lys)	rs2542532794
NM_000520.6(HEXA):c.74C>T (p.Pro25Leu)	rs2542582364
NM_000520.6(HEXA):c.826C>G (p.Pro276Ala)	rs773093433
NM_000520.6(HEXA):c.896A>C (p.Glu299Ala)	rs778191188
NM_000520.6(HEXA):c.929C>T (p.Ser310Phe)	rs2542522706

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