ClinVar Miner

List of variants in gene KIAA1549 studied for perceptual disorders

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 131
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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.958G>A (p.Asp320Asn) rs61978615 0.01092
NM_001164665.2(KIAA1549):c.4716C>T (p.Ile1572=) rs28523576 0.00683
NM_001164665.2(KIAA1549):c.658G>C (p.Ala220Pro) rs79731548 0.00602
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.5157C>T (p.Pro1719=) rs148849089 0.00307
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.3875C>T (p.Pro1292Leu) rs139052197 0.00099
NM_001164665.2(KIAA1549):c.2642C>T (p.Thr881Met) rs138709216 0.00081
NM_001164665.2(KIAA1549):c.2710G>A (p.Ala904Thr) rs117908080 0.00070
NM_001164665.2(KIAA1549):c.4214T>C (p.Val1405Ala) rs555092681 0.00055
NM_001164665.2(KIAA1549):c.2100C>T (p.Ser700=) rs3735012 0.00044
NM_001164665.2(KIAA1549):c.1344C>T (p.Ala448=) rs183368912 0.00039
NM_001164665.2(KIAA1549):c.116G>A (p.Arg39His) rs867020397 0.00030
NM_001164665.2(KIAA1549):c.630G>A (p.Ser210=) rs372624833 0.00028
NM_001164665.2(KIAA1549):c.2195C>T (p.Ala732Val) rs375118283 0.00024
NM_001164665.2(KIAA1549):c.5312G>C (p.Gly1771Ala) rs200895778 0.00022
NM_001164665.2(KIAA1549):c.5279C>T (p.Thr1760Met) rs201894165 0.00021
NM_001164665.2(KIAA1549):c.5568C>T (p.Tyr1856=) rs370609747 0.00021
NM_001164665.2(KIAA1549):c.5717C>G (p.Pro1906Arg) rs199760888 0.00019
NM_001164665.2(KIAA1549):c.2525C>T (p.Ala842Val) rs202114551 0.00018
NM_001164665.2(KIAA1549):c.5577C>T (p.Asp1859=) rs762072316 0.00016
NM_001164665.2(KIAA1549):c.1398C>T (p.Ser466=) rs572555872 0.00014
NM_001164665.2(KIAA1549):c.3146T>A (p.Val1049Glu) rs200468254 0.00014
NM_001164665.2(KIAA1549):c.297C>T (p.Pro99=) rs148061561 0.00010
NM_001164665.2(KIAA1549):c.3523C>G (p.Leu1175Val) rs766057548 0.00009
NM_001164665.2(KIAA1549):c.5833G>A (p.Val1945Met) rs370670659 0.00009
NM_001164665.2(KIAA1549):c.2196G>A (p.Ala732=) rs771197119 0.00006
NM_001164665.2(KIAA1549):c.426C>T (p.Tyr142=) rs183634909 0.00006
NM_001164665.2(KIAA1549):c.5590A>G (p.Arg1864Gly) rs377654979 0.00006
NM_001164665.2(KIAA1549):c.5701C>T (p.Arg1901Trp) rs372780314 0.00006
NM_001164665.2(KIAA1549):c.1477C>G (p.Leu493Val) rs537387549 0.00005
NM_001164665.2(KIAA1549):c.1925C>T (p.Ser642Leu) rs563536889 0.00004
NM_001164665.2(KIAA1549):c.2765G>A (p.Arg922His) rs762326899 0.00004
NM_001164665.2(KIAA1549):c.4125G>A (p.Ala1375=) rs377023001 0.00004
NM_001164665.2(KIAA1549):c.4959G>A (p.Gln1653=) rs184005645 0.00004
NM_001164665.2(KIAA1549):c.647C>T (p.Thr216Met) rs145518942 0.00004
NM_001164665.2(KIAA1549):c.697C>T (p.Arg233Trp) rs369822469 0.00004
NM_001164665.2(KIAA1549):c.886G>A (p.Gly296Ser) rs756111934 0.00004
NM_001164665.2(KIAA1549):c.1098T>G (p.Leu366=) rs777566268 0.00003
NM_001164665.2(KIAA1549):c.1550C>A (p.Thr517Lys) rs780751915 0.00003
NM_001164665.2(KIAA1549):c.4626C>T (p.Arg1542=) rs577570180 0.00003
NM_001164665.2(KIAA1549):c.1758G>A (p.Pro586=) rs751547233 0.00002
NM_001164665.2(KIAA1549):c.4372G>A (p.Glu1458Lys) rs781740183 0.00002
NM_001164665.2(KIAA1549):c.5191G>C (p.Ala1731Pro) rs145489214 0.00002
NM_001164665.2(KIAA1549):c.659C>T (p.Ala220Val) rs1040243371 0.00002
NM_001164665.2(KIAA1549):c.1070C>A (p.Thr357Lys) rs117227363 0.00001
NM_001164665.2(KIAA1549):c.1312A>G (p.Met438Val) rs778467957 0.00001
NM_001164665.2(KIAA1549):c.1448C>T (p.Thr483Met) rs763932528 0.00001
NM_001164665.2(KIAA1549):c.1740G>A (p.Ser580=) rs185123082 0.00001
NM_001164665.2(KIAA1549):c.2202G>A (p.Thr734=) rs772661539 0.00001
NM_001164665.2(KIAA1549):c.3070C>T (p.Arg1024Cys) rs745323375 0.00001
NM_001164665.2(KIAA1549):c.475A>G (p.Asn159Asp) rs761737159 0.00001
NM_001164665.2(KIAA1549):c.4951G>A (p.Asp1651Asn) rs551170524 0.00001
NM_001164665.2(KIAA1549):c.103C>T (p.Arg35Cys)
NM_001164665.2(KIAA1549):c.1049C>T (p.Ala350Val)
NM_001164665.2(KIAA1549):c.1074T>C (p.His358=)
NM_001164665.2(KIAA1549):c.1090A>G (p.Thr364Ala) rs59985563
NM_001164665.2(KIAA1549):c.1094C>T (p.Pro365Leu)
NM_001164665.2(KIAA1549):c.112C>T (p.Arg38Cys)
NM_001164665.2(KIAA1549):c.1288C>T (p.Gln430Ter)
NM_001164665.2(KIAA1549):c.1357A>G (p.Met453Val)
NM_001164665.2(KIAA1549):c.1500C>T (p.Ile500=)
NM_001164665.2(KIAA1549):c.1562T>C (p.Val521Ala) rs377033404
NM_001164665.2(KIAA1549):c.1564C>T (p.Pro522Ser)
NM_001164665.2(KIAA1549):c.166C>A (p.Arg56=)
NM_001164665.2(KIAA1549):c.1677G>A (p.Ser559=) rs367601456
NM_001164665.2(KIAA1549):c.1743T>G (p.Leu581=)
NM_001164665.2(KIAA1549):c.1747G>A (p.Val583Ile)
NM_001164665.2(KIAA1549):c.1796_1797del (p.Glu599fs)
NM_001164665.2(KIAA1549):c.1827del (p.Ser610fs)
NM_001164665.2(KIAA1549):c.2132C>T (p.Pro711Leu)
NM_001164665.2(KIAA1549):c.218C>T (p.Ser73Phe)
NM_001164665.2(KIAA1549):c.2316C>T (p.Pro772=) rs61746877
NM_001164665.2(KIAA1549):c.2400delinsAA (p.Glu801fs)
NM_001164665.2(KIAA1549):c.2504G>A (p.Gly835Asp)
NM_001164665.2(KIAA1549):c.2547G>A (p.Ser849=)
NM_001164665.2(KIAA1549):c.2632A>C (p.Asn878His)
NM_001164665.2(KIAA1549):c.2709C>T (p.Asp903=) rs201768497
NM_001164665.2(KIAA1549):c.2806C>T (p.Pro936Ser)
NM_001164665.2(KIAA1549):c.2900A>G (p.Gln967Arg)
NM_001164665.2(KIAA1549):c.3018C>G (p.Phe1006Leu)
NM_001164665.2(KIAA1549):c.3066T>G (p.Leu1022=)
NM_001164665.2(KIAA1549):c.3202A>G (p.Ile1068Val)
NM_001164665.2(KIAA1549):c.3258G>T (p.Thr1086=)
NM_001164665.2(KIAA1549):c.3270G>C (p.Thr1090=)
NM_001164665.2(KIAA1549):c.3292A>C (p.Ile1098Leu)
NM_001164665.2(KIAA1549):c.3317G>T (p.Arg1106Leu) rs200423257
NM_001164665.2(KIAA1549):c.335C>T (p.Pro112Leu)
NM_001164665.2(KIAA1549):c.3470A>C (p.Tyr1157Ser)
NM_001164665.2(KIAA1549):c.3623G>A (p.Arg1208Gln)
NM_001164665.2(KIAA1549):c.3768T>G (p.Ser1256=)
NM_001164665.2(KIAA1549):c.385A>G (p.Thr129Ala)
NM_001164665.2(KIAA1549):c.3993del (p.Gln1332fs) rs1554417054
NM_001164665.2(KIAA1549):c.4005T>C (p.Thr1335=)
NM_001164665.2(KIAA1549):c.4325C>T (p.Ser1442Phe)
NM_001164665.2(KIAA1549):c.4349C>T (p.Pro1450Leu)
NM_001164665.2(KIAA1549):c.4417T>A (p.Ser1473Thr)
NM_001164665.2(KIAA1549):c.4427C>T (p.Pro1476Leu) rs201971426
NM_001164665.2(KIAA1549):c.4519C>T (p.Arg1507Ter)
NM_001164665.2(KIAA1549):c.4615G>A (p.Ala1539Thr)
NM_001164665.2(KIAA1549):c.462C>G (p.Asp154Glu) rs191728209
NM_001164665.2(KIAA1549):c.4686C>A (p.His1562Gln) rs776206391
NM_001164665.2(KIAA1549):c.4689G>A (p.Arg1563=)
NM_001164665.2(KIAA1549):c.5103C>T (p.Ser1701=) rs1554411380
NM_001164665.2(KIAA1549):c.5198A>G (p.Gln1733Arg)
NM_001164665.2(KIAA1549):c.5262T>C (p.Tyr1754=)
NM_001164665.2(KIAA1549):c.52del (p.Arg18fs) rs1584799745
NM_001164665.2(KIAA1549):c.5326A>G (p.Thr1776Ala)
NM_001164665.2(KIAA1549):c.5403G>A (p.Ser1801=) rs1381129838
NM_001164665.2(KIAA1549):c.5418G>C (p.Ser1806=) rs774362698
NM_001164665.2(KIAA1549):c.5432G>A (p.Arg1811Gln)
NM_001164665.2(KIAA1549):c.625A>T (p.Thr209Ser)
NM_001164665.2(KIAA1549):c.679A>C (p.Ser227Arg)
NM_001164665.2(KIAA1549):c.698G>A (p.Arg233Gln)
NM_001164665.2(KIAA1549):c.74C>T (p.Pro25Leu)
NM_001164665.2(KIAA1549):c.834A>G (p.Glu278=)
NM_001164665.2(KIAA1549):c.95C>T (p.Pro32Leu)

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