List of variants in gene HEXA reported by Eurofins NTD LLC (GA)

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NM_000520.6(HEXA):c.1306A>G (p.Ile436Val)	rs1800431	0.87890
NM_000520.6(HEXA):c.1518A>G (p.Glu506=)	rs4777502	0.87885
NM_000520.6(HEXA):c.806-48G>T	rs73440586	0.06050
NM_000520.6(HEXA):c.1074-43C>G	rs16956759	0.06040
NM_000520.6(HEXA):c.1195A>G (p.Asn399Asp)	rs1800430	0.03370
NM_000520.6(HEXA):c.9C>T (p.Ser3=)	rs1800428	0.03048
NM_000520.6(HEXA):c.672+30T>G	rs117160567	0.01494
NM_000520.6(HEXA):c.759G>A (p.Val253=)	rs117513345	0.00412
NM_000520.6(HEXA):c.739C>T (p.Arg247Trp)	rs121907970	0.00190
NM_000520.6(HEXA):c.1527-6T>C	rs199914308	0.00087
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs)	rs387906309	0.00046
NM_000520.6(HEXA):c.1435G>A (p.Ala479Thr)	rs145012038	0.00038
NM_000520.6(HEXA):c.1073+1G>A	rs76173977	0.00021
NM_000520.4(HEXA):c.745C>T (p.Arg249Trp)	rs138058578	0.00019
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser)	rs121907954	0.00015
NM_000520.6(HEXA):c.1397A>G (p.Asn466Ser)	rs200936836	0.00009
NM_000520.6(HEXA):c.38C>T (p.Ala13Val)	rs145666272	0.00009
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.497G>A (p.Arg166His)	rs398123442	0.00002
NM_000520.6(HEXA):c.2T>C (p.Met1Thr)	rs786204721	0.00001
NM_000520.6(HEXA):c.536A>G (p.His179Arg)	rs747372270	0.00001
NM_000520.6(HEXA):c.1A>T (p.Met1Leu)	rs121907965
NM_000520.6(HEXA):c.298G>T (p.Val100Phe)	rs794727250

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