List of variants in gene HEXA reported by Quest Diagnostics Nichols Institute San Juan Capistrano

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_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.1195A>G (p.Asn399Asp)	rs1800430	0.03370
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.8G>C (p.Ser3Thr)	rs374524755	0.00031
NM_000520.6(HEXA):c.836C>G (p.Ser279Cys)	rs148199798	0.00011
NM_000520.6(HEXA):c.1511G>A (p.Arg504His)	rs121907955	0.00002
NM_000520.6(HEXA):c.260G>A (p.Arg87Gln)	rs766966378	0.00001
NM_000520.6(HEXA):c.1028G>T (p.Gly343Val)	rs191330716
NM_000520.6(HEXA):c.106C>G (p.Arg36Gly)
NM_000520.6(HEXA):c.1123del (p.Glu375fs)	rs766138785
NM_000520.6(HEXA):c.1339G>A (p.Glu447Lys)
NM_000520.6(HEXA):c.533G>T (p.Arg178Leu)	rs28941770
NM_000520.6(HEXA):c.570+1G>A	rs786204754
NM_000520.6(HEXA):c.736G>T (p.Ala246Ser)	rs758166013

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