ClinVar Miner

List of variants in gene KIAA1549 studied for Retinitis pigmentosa 86

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Total variants: 27
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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.958G>A (p.Asp320Asn) rs61978615 0.01092
NM_001164665.2(KIAA1549):c.4716C>T (p.Ile1572=) rs28523576 0.00683
NM_001164665.2(KIAA1549):c.3052A>T (p.Ile1018Leu) rs185695096 0.00534
NM_001164665.2(KIAA1549):c.4930-14A>G rs80130913 0.00514
NM_001164665.2(KIAA1549):c.4214T>C (p.Val1405Ala) rs555092681 0.00055
NM_001164665.2(KIAA1549):c.116G>A (p.Arg39His) rs867020397 0.00030
NM_001164665.2(KIAA1549):c.5577C>T (p.Asp1859=) rs762072316 0.00016
NM_001164665.2(KIAA1549):c.3146T>A (p.Val1049Glu) rs200468254 0.00014
NM_001164665.2(KIAA1549):c.1925C>T (p.Ser642Leu) rs563536889 0.00004
NM_001164665.2(KIAA1549):c.4125G>A (p.Ala1375=) rs377023001 0.00004
NM_001164665.2(KIAA1549):c.1070C>A (p.Thr357Lys) rs117227363 0.00001
NM_001164665.2(KIAA1549):c.1090A>G (p.Thr364Ala) rs59985563
NM_001164665.2(KIAA1549):c.1827del (p.Ser610fs)
NM_001164665.2(KIAA1549):c.2316C>T (p.Pro772=) rs61746877
NM_001164665.2(KIAA1549):c.2400delinsAA (p.Glu801fs)
NM_001164665.2(KIAA1549):c.4519C>T (p.Arg1507Ter)
NM_001164665.2(KIAA1549):c.4686C>A (p.His1562Gln) rs776206391
NM_001164665.2(KIAA1549):c.52del (p.Arg18fs) rs1584799745

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