List of variants in gene HGSNAT reported by Inherited Eye Disorders lab, UCL Institute of Ophthalmology

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_152419.3(HGSNAT):c.715C>T (p.Arg239Cys)	rs369292480	0.00011
NM_152419.3(HGSNAT):c.887C>T (p.Ser296Leu)	rs372933126	0.00001
NM_152419.3(HGSNAT):c.1252G>C (p.Gly418Arg)	rs1447139472
NM_152419.3(HGSNAT):c.1271dup (p.Ile425fs)	rs1804565177
NM_152419.3(HGSNAT):c.1283T>G (p.Phe428Cys)	rs777276988
NM_152419.3(HGSNAT):c.1543-2A>C	rs1804769861
NM_152419.3(HGSNAT):c.1708del (p.Thr570fs)	rs1804782152
NM_152419.3(HGSNAT):c.743G>C (p.Gly248Ala)	rs1324238938

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