ClinVar Miner

List of variants reported as benign for Retinitis pigmentosa 86

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001164665.2(KIAA1549):c.3708G>T (p.Pro1236=) rs7802841 0.71421
NM_001164665.2(KIAA1549):c.2973C>T (p.Tyr991=) rs6969074 0.54454
NM_001164665.2(KIAA1549):c.1849A>G (p.Arg617Gly) rs2774962 0.52408
NM_001164665.2(KIAA1549):c.2546C>T (p.Ser849Leu) rs2251220 0.43675
NM_001164665.2(KIAA1549):c.1955C>T (p.Pro652Leu) rs2774960 0.41799
NM_001164665.2(KIAA1549):c.2301T>C (p.Thr767=) rs61746879 0.08707
NM_001164665.2(KIAA1549):c.2800G>A (p.Asp934Asn) rs2150283 0.05297
NM_001164665.2(KIAA1549):c.2666G>T (p.Gly889Val) rs2354336 0.05287
NM_001164665.2(KIAA1549):c.1940C>G (p.Ser647Cys) rs61734132 0.05285
NM_001164665.2(KIAA1549):c.1090A>G (p.Thr364Ala) rs59985563
NM_001164665.2(KIAA1549):c.2316C>T (p.Pro772=) rs61746877

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