List of variants in gene HEXB reported by OMIM

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: 16

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HGVS	dbSNP	gnomAD frequency
NM_000521.4(HEXB):c.362A>G (p.Lys121Arg)	rs11556045	0.20835
NM_000521.4(HEXB):c.619A>G (p.Ile207Val)	rs10805890	0.12644
NM_000521.3(HEXB):c.185C>T (p.Ser62Leu)	rs820878	0.02757
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu)	rs28942073	0.00046
NM_000521.4(HEXB):c.1627G>A (p.Ala543Thr)	rs121907984	0.00012
NM_000521.4(HEXB):c.1367A>C (p.Tyr456Ser)	rs121907982	0.00004
NM_000521.4(HEXB):c.1510C>T (p.Pro504Ser)	rs121907985	0.00004
NM_000521.4(HEXB):c.1614-16_1615dup	rs1554037309	0.00002
NM_000521.4(HEXB):c.1514G>A (p.Arg505Gln)	rs121907983	0.00001
NM_000521.4(HEXB):c.850C>T (p.Arg284Ter)	rs121907986	0.00001
NM_000521.4(HEXB):c.965del (p.Ile322fs)	rs768438206	0.00001
NG_009770.3:g.48585_63669del
NM_000521.4(HEXB):c.1082+5G>C	rs5030731
NM_000521.4(HEXB):c.1481A>G (p.Asp494Gly)	rs1554037088
NM_000521.4(HEXB):c.1509-26G>A	rs201580118
NM_000521.4(HEXB):c.76del (p.Met26fs)	rs1580377105

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