List of variants in gene HEXB 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: 30

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HGVS	dbSNP	gnomAD frequency
NM_000521.4(HEXB):c.185T>C (p.Leu62Ser)	rs820878	0.97243
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_000521.4(HEXB):c.772-4A>G	rs17561000	0.06806
NM_000521.4(HEXB):c.1258A>G (p.Ile420Val)	rs77499935	0.00923
NM_000521.4(HEXB):c.214C>T (p.Leu72Phe)	rs147155126	0.00758
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu)	rs28942073	0.00046
NM_000521.4(HEXB):c.1614-14C>A	rs201448394	0.00019
NM_000521.4(HEXB):c.1627G>A (p.Ala543Thr)	rs121907984	0.00012
NM_000521.4(HEXB):c.1478T>G (p.Val493Gly)	rs794727049	0.00003
NM_000521.4(HEXB):c.1614-16_1615dup	rs1554037309	0.00002
NM_000521.4(HEXB):c.1645G>A (p.Gly549Arg)	rs398123448	0.00002
NM_000521.4(HEXB):c.311A>G (p.Tyr104Cys)	rs762209256	0.00002
NM_000521.4(HEXB):c.1243-2A>G	rs398123446	0.00001
NM_000521.4(HEXB):c.508C>T (p.Arg170Ter)	rs753823903	0.00001
NM_000521.4(HEXB):c.1023_1026del (p.Ser341fs)	rs776476415
NM_000521.4(HEXB):c.115del (p.Val39fs)	rs398123443
NM_000521.4(HEXB):c.1169+3_1169+10del	rs398123444
NM_000521.4(HEXB):c.1239_1243del (p.Lys414fs)	rs398123445
NM_000521.4(HEXB):c.1375G>T (p.Asp459Tyr)	rs398123447
NM_000521.4(HEXB):c.1517_1529dup (p.Glu511fs)	rs797044644
NM_000521.4(HEXB):c.1535_1536del (p.Arg512fs)	rs794727091
NM_000521.4(HEXB):c.1601G>T (p.Cys534Phe)	rs727503960
NM_000521.4(HEXB):c.1652G>A (p.Cys551Tyr)	rs727503961
NM_000521.4(HEXB):c.587A>C (p.Asp196Ala)	rs398123449
NM_000521.4(HEXB):c.771+5G>C	rs727503959
NM_000521.4(HEXB):c.797A>G (p.Tyr266Cys)	rs398123450
NM_000521.4(HEXB):c.833C>T (p.Ala278Val)	rs886044118
NM_000521.4(HEXB):c.895G>A (p.Gly299Arg)	rs398123451
NM_000521.4(HEXB):c.902-48del	rs78084621

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