List of variants in gene GCNT2 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: 12

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HGVS	dbSNP	gnomAD frequency
NM_145649.5(GCNT2):c.14G>A (p.Trp5Ter)	rs185805779	0.00023
NM_001491.3(GCNT2):c.60del (p.Ile20fs)	rs1184095219	0.00013
NM_145649.5(GCNT2):c.1046A>G (p.Tyr349Cys)	rs148284531	0.00009
NM_145649.5(GCNT2):c.1049G>A (p.Gly350Glu)	rs56141211	0.00005
NM_145649.5(GCNT2):c.1154G>A (p.Arg385His)	rs55940927	0.00002
NM_001491.3(GCNT2):c.710_711insT (p.Lys237fs)	rs949335475	0.00001
NC_000006.11:g.(?_10556657)_(10626840_?)del
NC_000006.12:g.(?_10528892)_(10557362_?)del
NC_000006.12:g.(?_10556404)_(10626627_?)del
NM_001491.2(GCNT2):c.-117_*41del
NM_001491.3(GCNT2):c.760del (p.His254fs)
NM_145649.5(GCNT2):c.1000A>T (p.Arg334Ter)	rs2127444957

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