List of variants in gene GNAT2 reported as pathogenic for blindness (disorder)

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001377295.2(GNAT2):c.481C>T (p.Arg161Ter)	rs745308973	0.00004
NM_001377295.2(GNAT2):c.313C>T (p.Arg105Ter)	rs1403825722	0.00001
NM_001377295.2(GNAT2):c.937C>T (p.Arg313Ter)	rs748981899	0.00001
NM_001377295.2(GNAT2):c.235C>T (p.Gln79Ter)	rs121434585
NM_001377295.2(GNAT2):c.285_291delinsCTGTAT (p.Ala96fs)	rs1557920291
NM_001377295.2(GNAT2):c.303+365_461+974del
NM_001377295.2(GNAT2):c.303+365_461+974dup
NM_001377295.2(GNAT2):c.461+24G>A	rs397515384
NM_001377295.2(GNAT2):c.503dup (p.Pro169_Ser170insTer)	rs1557918911
NM_001377295.2(GNAT2):c.591-2A>C	rs1557918638
NM_001377295.2(GNAT2):c.803_806dup (p.Lys270fs)	rs1557917899
NM_001377295.2(GNAT2):c.842_843insTCAG (p.His282fs)	rs2101121827
NM_001377295.2(GNAT2):c.955del (p.Ile319fs)	rs1557917535

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