List of variants in gene HEXA reported by PreventionGenetics, part of Exact Sciences

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: 27

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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.1331-46G>A	rs2303448	0.04341
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.346+13C>T	rs200871198	0.00173
NM_000520.6(HEXA):c.1146+8G>A	rs201453018	0.00167
NM_000520.6(HEXA):c.254-33G>A	rs186468379	0.00164
NM_000520.6(HEXA):c.1527-6T>C	rs199914308	0.00087
NM_000520.6(HEXA):c.-4G>A	rs766510036	0.00050
NM_000520.6(HEXA):c.8G>C (p.Ser3Thr)	rs374524755	0.00031
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.582G>A (p.Ala194=)	rs112614306	0.00016
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser)	rs121907954	0.00015
NM_000520.6(HEXA):c.533G>A (p.Arg178His)	rs28941770	0.00005
NM_000520.6(HEXA):c.1393G>A (p.Asp465Asn)	rs750727201	0.00001
NM_000520.6(HEXA):c.1545A>G (p.Gln515=)	rs369398952	0.00001
NM_000520.6(HEXA):c.1317C>G (p.Pro439=)	rs1003506073
NM_000520.6(HEXA):c.1499del (p.Leu500fs)	rs1567295184
NM_000520.6(HEXA):c.709C>T (p.Gln237Ter)	rs150675340
NM_000520.6(HEXA):c.805+1G>A	rs121907980

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