List of variants in gene HGSNAT reported by Blueprint Genetics

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)	rs112029032	0.00361
NM_152419.3(HGSNAT):c.1622C>T (p.Ser541Leu)	rs756310864	0.00004
NM_152419.3(HGSNAT):c.1250+1G>A	rs398124544	0.00002
NM_152419.3(HGSNAT):c.370A>T (p.Arg124Trp)	rs754875934	0.00002
NM_152419.3(HGSNAT):c.234+1G>A	rs483352908	0.00001
NM_152419.3(HGSNAT):c.1229_1237del (p.Leu410_Val412del)	rs1804530896
NM_152419.3(HGSNAT):c.1267G>T (p.Gly423Trp)	rs1064795522
NM_152419.3(HGSNAT):c.1330C>T (p.Arg444Cys)	rs763301637
NM_152419.3(HGSNAT):c.1856G>A (p.Trp619Ter)	rs1563388121
NM_152419.3(HGSNAT):c.791A>G (p.Tyr264Cys)	rs1803654618

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