ClinVar Miner

List of variants reported as benign for Leber congenital amaurosis 12 by Invitae

Included ClinVar conditions (1):
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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001164688.2(RD3):c.500G>A (p.Arg167Lys) rs74782684 0.01632
NM_001164688.2(RD3):c.584A>T (p.Asp195Val) rs143207434 0.01101
NM_001164688.2(RD3):c.84G>A (p.Thr28=) rs61740158 0.00932
NM_001164688.2(RD3):c.296+18G>A rs112790429 0.00876
NM_001164688.2(RD3):c.16T>C (p.Trp6Arg) rs35649846 0.00871
NM_001164688.2(RD3):c.235T>C (p.Leu79=) rs35937732 0.00870
NM_001164688.2(RD3):c.139C>T (p.Arg47Cys) rs34049451 0.00854
NM_001164688.2(RD3):c.69G>C (p.Glu23Asp) rs34422496 0.00786
NM_001164688.2(RD3):c.519G>A (p.Val173=) rs139419737 0.00062
NM_001164688.2(RD3):c.168C>T (p.Thr56=) rs146420268 0.00057
NM_001164688.2(RD3):c.296+18del rs753221814

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