List of variants in gene RD3 reported as pathogenic for Leber congenital amaurosis 12

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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: 10

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HGVS	dbSNP	gnomAD frequency
NC_000001.10:g.(?_211652378)_(211654757_?)del
NM_001164688.2(RD3):c.112C>T (p.Arg38Ter)	rs786205148
NM_001164688.2(RD3):c.136G>T (p.Glu46Ter)	rs786205150
NM_001164688.2(RD3):c.137_138del (p.Glu46fs)	rs786205149
NM_001164688.2(RD3):c.13_14del (p.Ser5fs)	rs761112550
NM_001164688.2(RD3):c.180C>A (p.Tyr60Ter)	rs762631020
NM_001164688.2(RD3):c.238C>T (p.Gln80Ter)
NM_001164688.2(RD3):c.296+1G>A	rs386834260
NM_001164688.2(RD3):c.296+1G>T	rs386834260
NM_001164688.2(RD3):c.38del (p.Pro13fs)

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