ClinVar Miner

List of variants in gene KIAA1549 reported by Dept Of Ophthalmology, Nagoya University

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 95
Download table as spreadsheet
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.3036C>T (p.Ser1012=) rs16873582 0.08470
NM_001164665.2(KIAA1549):c.658G>C (p.Ala220Pro) rs79731548 0.00602
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.2100C>T (p.Ser700=) rs3735012 0.00044
NM_001164665.2(KIAA1549):c.1344C>T (p.Ala448=) rs183368912 0.00039
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.5568C>T (p.Tyr1856=) rs370609747 0.00021
NM_001164665.2(KIAA1549):c.2525C>T (p.Ala842Val) rs202114551 0.00018
NM_001164665.2(KIAA1549):c.1398C>T (p.Ser466=) rs572555872 0.00014
NM_001164665.2(KIAA1549):c.297C>T (p.Pro99=) rs148061561 0.00010
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.5701C>T (p.Arg1901Trp) rs372780314 0.00006
NM_001164665.2(KIAA1549):c.1477C>G (p.Leu493Val) rs537387549 0.00005
NM_001164665.2(KIAA1549):c.2765G>A (p.Arg922His) rs762326899 0.00004
NM_001164665.2(KIAA1549):c.4959G>A (p.Gln1653=) rs184005645 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.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.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.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.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.2132C>T (p.Pro711Leu)
NM_001164665.2(KIAA1549):c.218C>T (p.Ser73Phe)
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.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.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.4615G>A (p.Ala1539Thr)
NM_001164665.2(KIAA1549):c.462C>G (p.Asp154Glu) rs191728209
NM_001164665.2(KIAA1549):c.4689G>A (p.Arg1563=)
NM_001164665.2(KIAA1549):c.5198A>G (p.Gln1733Arg)
NM_001164665.2(KIAA1549):c.5262T>C (p.Tyr1754=)
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.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)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.