List of variants in gene HEXA reported as pathogenic for not provided

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: 35

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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.1305C>T (p.Tyr435=)	rs587779406	0.00011
NM_000520.6(HEXA):c.459+5G>A	rs762060470	0.00009
NM_000520.6(HEXA):c.806-7G>A	rs770932296	0.00006
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.1260G>C (p.Trp420Cys)	rs121907958	0.00003
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.1177C>T (p.Arg393Ter)	rs121907963	0.00001
NM_000520.6(HEXA):c.1444G>A (p.Glu482Lys)	rs121907952	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.233G>A (p.Trp78Ter)	rs769035623	0.00001
NM_000520.6(HEXA):c.2T>C (p.Met1Thr)	rs786204721	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.1043_1046del (p.Phe348fs)	rs1057516755
NM_000520.6(HEXA):c.1048C>T (p.Gln350Ter)
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.1444G>T (p.Glu482Ter)	rs121907952
NM_000520.6(HEXA):c.155C>A (p.Ser52Ter)	rs987036804
NM_000520.6(HEXA):c.1A>T (p.Met1Leu)	rs121907965
NM_000520.6(HEXA):c.570+1G>A	rs786204754
NM_000520.6(HEXA):c.672+1G>A	rs387906311
NM_000520.6(HEXA):c.743del (p.Leu248fs)	rs2140324174
NM_000520.6(HEXA):c.748G>A (p.Gly250Ser)	rs1057521137
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.986+2T>C

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