List of variants in gene HEXA reported as pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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: 44

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HGVS	dbSNP	gnomAD frequency
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs)	rs387906309	0.00046
NM_000520.6(HEXA):c.1073+1G>A	rs76173977	0.00021
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser)	rs121907954	0.00015
NM_000520.6(HEXA):c.459+5G>A	rs762060470	0.00009
NM_000520.6(HEXA):c.460-1G>T	rs764343937	0.00005
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.409C>T (p.Arg137Ter)	rs121907962	0.00004
NM_000520.6(HEXA):c.986+3A>G	rs200926928	0.00004
NM_000520.6(HEXA):c.1421+1G>C	rs147324677	0.00002
NM_000520.6(HEXA):c.1511G>A (p.Arg504His)	rs121907955	0.00002
NM_000520.6(HEXA):c.571-1G>T	rs185429231	0.00002
NM_000520.6(HEXA):c.1177C>T (p.Arg393Ter)	rs121907963	0.00001
NM_000520.6(HEXA):c.1422G>C (p.Trp474Cys)	rs121907981	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.1510C>T (p.Arg504Cys)	rs28942071	0.00001
NM_000520.6(HEXA):c.1528C>T (p.Arg510Ter)	rs786204585	0.00001
NM_000520.6(HEXA):c.1A>G (p.Met1Val)	rs121907965	0.00001
NM_000520.6(HEXA):c.2T>C (p.Met1Thr)	rs786204721	0.00001
NM_000520.6(HEXA):c.346+1G>C	rs797044432	0.00001
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp)	rs121907972	0.00001
NM_000520.6(HEXA):c.509G>A (p.Arg170Gln)	rs121907957	0.00001
NM_000520.6(HEXA):c.72G>A (p.Trp24Ter)	rs1555475519	0.00001
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys)	rs566580738	0.00001
NM_000520.6(HEXA):c.805+1G>C	rs121907980	0.00001
NC_000015.9:g.(72648959_72668060)_(72668815_?)del
NM_000520.6(HEXA):c.1043_1046del (p.Phe348fs)	rs1057516755
NM_000520.6(HEXA):c.1123del (p.Glu375fs)	rs766138785
NM_000520.6(HEXA):c.1168C>T (p.Gln390Ter)	rs988192535
NM_000520.6(HEXA):c.1330+1G>A	rs767041069
NM_000520.6(HEXA):c.1435del (p.Ala479fs)	rs2088601317
NM_000520.6(HEXA):c.155C>A (p.Ser52Ter)	rs987036804
NM_000520.6(HEXA):c.346+1G>A	rs797044432
NM_000520.6(HEXA):c.380T>G (p.Leu127Arg)	rs121907975
NM_000520.6(HEXA):c.413-2A>G	rs2088733862
NM_000520.6(HEXA):c.425_426del (p.Thr141_Phe142insTer)	rs1057519458
NM_000520.6(HEXA):c.496del (p.Arg166fs)	rs2088724288
NM_000520.6(HEXA):c.672+1G>A	rs387906311
NM_000520.6(HEXA):c.78G>A (p.Trp26Ter)	rs121907964
NM_000520.6(HEXA):c.805+1G>A	rs121907980
NM_000520.6(HEXA):c.912CTT[1] (p.Phe305del)	rs121907960
NM_000520.6(HEXA):c.929_930del (p.Ser310fs)	rs751248523
NM_000520.6(HEXA):c.964G>T (p.Asp322Tyr)	rs772180415

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