List of variants in gene HEXA reported by CeGaT Center for Human Genetics Tuebingen

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: 29

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HGVS	dbSNP	gnomAD frequency
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.1107C>T (p.Gly369=)	rs140337137	0.00100
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.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_000520.4(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.459+5G>A	rs762060470	0.00009
NM_000520.6(HEXA):c.102C>T (p.Asp34=)	rs377310315	0.00007
NM_000520.6(HEXA):c.1490A>G (p.Tyr497Cys)	rs147502219	0.00007
NM_000520.6(HEXA):c.533G>A (p.Arg178His)	rs28941770	0.00005
NM_000520.6(HEXA):c.1231G>A (p.Gly411Ser)	rs575121167	0.00004
NM_000520.6(HEXA):c.1496G>A (p.Arg499His)	rs121907956	0.00004
NM_000520.6(HEXA):c.1302C>G (p.Phe434Leu)	rs202173526	0.00002
NM_000520.6(HEXA):c.2T>C (p.Met1Thr)	rs786204721	0.00001
NM_000520.6(HEXA):c.346+2dup	rs1430416918	0.00001
NM_000520.6(HEXA):c.410G>A (p.Arg137Gln)	rs769724246	0.00001
NM_000520.6(HEXA):c.1048C>T (p.Gln350Ter)
NM_000520.6(HEXA):c.1317C>G (p.Pro439=)	rs1003506073
NM_000520.6(HEXA):c.1549C>G (p.Leu517Val)	rs1595795490
NM_000520.6(HEXA):c.254-23C>T
NM_000520.6(HEXA):c.590A>C (p.Lys197Thr)	rs121907973
NM_000520.6(HEXA):c.611A>G (p.His204Arg)	rs121907976
NM_000520.6(HEXA):c.698T>C (p.Ile233Thr)	rs1595800112
NM_000520.6(HEXA):c.72G>T (p.Trp24Cys)	rs1555475519
NM_000520.6(HEXA):c.986+2T>C

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