List of variants in gene AGK reported as pathogenic for cataract

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_018238.4(AGK):c.297+2T>C	rs765471424	0.00005
NM_018238.4(AGK):c.672C>A (p.Tyr224Ter)	rs771945804	0.00002
NM_018238.4(AGK):c.409C>T (p.Arg137Ter)	rs746709222	0.00001
NM_018238.4(AGK):c.412C>T (p.Arg138Ter)	rs1199705359	0.00001
NC_000007.13:g.(?_141255267)_(141301100_?)del
NC_000007.13:g.(?_141292926)_(141293005_?)del
NC_000007.13:g.(?_141351305)_(141352724_?)del
NM_018238.4(AGK):c.1035dup (p.Ile346fs)	rs1259937492
NM_018238.4(AGK):c.1141_1142dup (p.Ser382fs)	rs1554405928
NM_018238.4(AGK):c.1166_1167dup (p.Tyr390fs)
NM_018238.4(AGK):c.25C>T (p.Arg9Ter)
NM_018238.4(AGK):c.356dup (p.Ile120fs)
NM_018238.4(AGK):c.388G>T (p.Glu130Ter)
NM_018238.4(AGK):c.409del (p.Arg137fs)
NM_018238.4(AGK):c.424-3C>G	rs766413410
NM_018238.4(AGK):c.632G>A (p.Trp211Ter)	rs2116998520
NM_018238.4(AGK):c.860G>A (p.Trp287Ter)

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