ClinVar Miner

List of variants in gene KIAA1549 reported as benign for retinal disorder

Included ClinVar conditions (500):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
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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.1456C>G (p.Pro486Ala) rs2718131 0.21208
NM_001164665.2(KIAA1549):c.5136C>T (p.Pro1712=) rs12707399 0.09704
NM_001164665.2(KIAA1549):c.2301T>C (p.Thr767=) rs61746879 0.08707
NM_001164665.2(KIAA1549):c.3036C>T (p.Ser1012=) rs16873582 0.08470
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.658G>C (p.Ala220Pro) rs79731548 0.00602
NM_001164665.2(KIAA1549):c.1656C>T (p.Ser552=) rs113045455 0.00233
NM_001164665.2(KIAA1549):c.5186G>A (p.Arg1729Lys) rs60797311 0.00231
NM_001164665.2(KIAA1549):c.2710G>A (p.Ala904Thr) rs117908080 0.00070
NM_001164665.2(KIAA1549):c.2100C>T (p.Ser700=) rs3735012 0.00044
NM_001164665.2(KIAA1549):c.5191G>C (p.Ala1731Pro) rs145489214 0.00002
NM_001164665.2(KIAA1549):c.1740G>A (p.Ser580=) rs185123082 0.00001
NM_001164665.2(KIAA1549):c.1090A>G (p.Thr364Ala) rs59985563
NM_001164665.2(KIAA1549):c.2316C>T (p.Pro772=) rs61746877

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