ClinVar Miner

List of variants in gene HEXA reported by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 51
Download table as spreadsheet
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 0.00100
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00046
NM_000520.6(HEXA):c.1338T>C (p.Pro446=) rs34085965 0.00029
NM_000520.6(HEXA):c.1073+1G>A rs76173977 0.00021
NM_000520.6(HEXA):c.1216C>T (p.Leu406=) rs140482769 0.00019
NM_000520.6(HEXA):c.517C>T (p.Leu173=) rs200743199 0.00017
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser) rs121907954 0.00015
NM_000520.6(HEXA):c.1416G>C (p.Arg472Ser) rs369117208 0.00012
NM_000520.6(HEXA):c.1305C>T (p.Tyr435=) rs587779406 0.00011
NM_000520.6(HEXA):c.836C>G (p.Ser279Cys) rs148199798 0.00011
NM_000520.6(HEXA):c.581C>T (p.Ala194Val) rs778947516 0.00010
NM_000520.6(HEXA):c.533G>A (p.Arg178His) rs28941770 0.00005
NM_000520.6(HEXA):c.1496G>A (p.Arg499His) rs121907956 0.00004
NM_000520.6(HEXA):c.840G>A (p.Gly280=) rs778823870 0.00003
NM_000520.6(HEXA):c.906C>T (p.Ser302=) rs765612435 0.00002
NM_000520.6(HEXA):c.1393G>A (p.Asp465Asn) rs750727201 0.00001
NM_000520.6(HEXA):c.1444G>A (p.Glu482Lys) rs121907952 0.00001
NM_000520.6(HEXA):c.1495C>T (p.Arg499Cys) rs121907966 0.00001
NM_000520.6(HEXA):c.168C>T (p.Pro56=) rs777515618 0.00001
NM_000520.6(HEXA):c.345T>G (p.Asn115Lys) rs774220090 0.00001
NM_000520.6(HEXA):c.357C>T (p.Thr119=) rs1242269336 0.00001
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp) rs121907972 0.00001
NM_000520.6(HEXA):c.598G>A (p.Val200Met) rs1800429 0.00001
NM_000520.6(HEXA):c.104A>C (p.Gln35Pro)
NM_000520.6(HEXA):c.115C>T (p.Leu39Phe)
NM_000520.6(HEXA):c.1165A>G (p.Ile389Val)
NM_000520.6(HEXA):c.1166T>C (p.Ile389Thr)
NM_000520.6(HEXA):c.1253C>G (p.Ala418Gly)
NM_000520.6(HEXA):c.1297G>A (p.Asp433Asn)
NM_000520.6(HEXA):c.1317C>G (p.Pro439=) rs1003506073
NM_000520.6(HEXA):c.1396A>G (p.Asn466Asp)
NM_000520.6(HEXA):c.13A>G (p.Arg5Gly)
NM_000520.6(HEXA):c.1470A>G (p.Thr490=)
NM_000520.6(HEXA):c.1487C>G (p.Ala496Gly)
NM_000520.6(HEXA):c.1559G>A (p.Gly520Asp)
NM_000520.6(HEXA):c.214C>T (p.Leu72Phe)
NM_000520.6(HEXA):c.227G>C (p.Gly76Ala) rs2089055615
NM_000520.6(HEXA):c.261G>A (p.Arg87=) rs1298623340
NM_000520.6(HEXA):c.346+1G>T rs797044432
NM_000520.6(HEXA):c.458C>A (p.Thr153Lys)
NM_000520.6(HEXA):c.471C>A (p.Asn157Lys)
NM_000520.6(HEXA):c.495C>T (p.Pro165=)
NM_000520.6(HEXA):c.496C>T (p.Arg166Cys)
NM_000520.6(HEXA):c.74C>T (p.Pro25Leu)
NM_000520.6(HEXA):c.859T>C (p.Phe287Leu)
NM_000520.6(HEXA):c.896A>C (p.Glu299Ala)
NM_000520.6(HEXA):c.912C>T (p.Phe304=) rs1385655581
NM_000520.6(HEXA):c.912CTT[1] (p.Phe305del) rs121907960
NM_000520.6(HEXA):c.929C>T (p.Ser310Phe)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.