ClinVar Miner

List of variants reported as pathogenic for Leber congenital amaurosis 12 by OMIM

Included ClinVar conditions (1):
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Total variants: 5
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HGVS dbSNP gnomAD frequency
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.180C>A (p.Tyr60Ter) rs762631020
NM_001164688.2(RD3):c.296+1G>A rs386834260

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