ClinVar Miner

List of variants in gene KIAA0586 studied for Joubert syndrome

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 52
Download table as spreadsheet
HGVS dbSNP
NC_000014.8:g.(?_58910652)_(58917484_?)del
NM_001329943.3(KIAA0586):c.1000C>T (p.Gln334Ter) rs796052128
NM_001329943.3(KIAA0586):c.100G>T (p.Val34Phe) rs186659284
NM_001329943.3(KIAA0586):c.1045G>A (p.Val349Ile) rs771000156
NM_001329943.3(KIAA0586):c.1056A>G (p.Ser352=) rs148006211
NM_001329943.3(KIAA0586):c.1080G>C (p.Arg360Ser) rs200094677
NM_001329943.3(KIAA0586):c.117G>A (p.Glu39=) rs190089844
NM_001329943.3(KIAA0586):c.1230A>G (p.Gly410=) rs10135645
NM_001329943.3(KIAA0586):c.1254-1G>C rs757350052
NM_001329943.3(KIAA0586):c.1271_1274delinsGA (p.Glu424fs) rs869312856
NM_001329943.3(KIAA0586):c.1439C>T (p.Thr480Ile) rs61745119
NM_001329943.3(KIAA0586):c.1538A>T (p.Asp513Val) rs796052129
NM_001329943.3(KIAA0586):c.1543G>A (p.Ala515Thr) rs568910724
NM_001329943.3(KIAA0586):c.1570T>A (p.Leu524Ile) rs61742715
NM_001329943.3(KIAA0586):c.1571_1575del (p.Leu524fs) rs863225203
NM_001329943.3(KIAA0586):c.1804C>T (p.Gln602Ter) rs1566827747
NM_001329943.3(KIAA0586):c.202T>A (p.Ser68Thr) rs147119902
NM_001329943.3(KIAA0586):c.2060-3T>C rs17094553
NM_001329943.3(KIAA0586):c.2504_2508del (p.Leu835fs) rs1410766981
NM_001329943.3(KIAA0586):c.2735C>T (p.Pro912Leu) rs139493302
NM_001329943.3(KIAA0586):c.2804T>A (p.Leu935Gln) rs537951340
NM_001329943.3(KIAA0586):c.2944+4A>C rs372841738
NM_001329943.3(KIAA0586):c.3003C>A (p.Asn1001Lys) rs199537542
NM_001329943.3(KIAA0586):c.3104G>A (p.Gly1035Asp) rs77860620
NM_001329943.3(KIAA0586):c.3144G>A (p.Pro1048=) rs540255320
NM_001329943.3(KIAA0586):c.3165_3166delinsAG (p.Pro1056Ala) rs386777947
NM_001329943.3(KIAA0586):c.365A>G (p.Tyr122Cys) rs746136288
NM_001329943.3(KIAA0586):c.3663T>G (p.Ser1221=) rs201202020
NM_001329943.3(KIAA0586):c.3719T>C (p.Leu1240Ser) rs190271845
NM_001329943.3(KIAA0586):c.3739G>A (p.Gly1247Arg)
NM_001329943.3(KIAA0586):c.3781+2T>C rs1331480187
NM_001329943.3(KIAA0586):c.3799C>G (p.Leu1267Val)
NM_001329943.3(KIAA0586):c.38dup (p.Ile14fs) rs745949846
NM_001329943.3(KIAA0586):c.3920A>G (p.Asp1307Gly) rs3783697
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684
NM_001329943.3(KIAA0586):c.3980A>G (p.Tyr1327Cys)
NM_001329943.3(KIAA0586):c.4160C>T (p.Thr1387Ile) rs376795880
NM_001329943.3(KIAA0586):c.422T>C (p.Met141Thr) rs61735931
NM_001329943.3(KIAA0586):c.4305C>G (p.Ala1435=) rs144692893
NM_001329943.3(KIAA0586):c.4430-6A>C rs199732899
NM_001329943.3(KIAA0586):c.4461T>C (p.Ile1487=) rs11611
NM_001329943.3(KIAA0586):c.4472C>T (p.Pro1491Leu) rs370303493
NM_001329943.3(KIAA0586):c.4560G>A (p.Pro1520=) rs45568037
NM_001329943.3(KIAA0586):c.643C>T (p.Gln215Ter) rs201097695
NM_001329943.3(KIAA0586):c.704_705del (p.Gln235fs) rs770566897
NM_001329943.3(KIAA0586):c.790C>T (p.Gln264Ter) rs1057516038
NM_001329943.3(KIAA0586):c.831C>T (p.Leu277=) rs780520735
NM_001329943.3(KIAA0586):c.974A>T (p.Glu325Val) rs144456198
NM_014749.5(KIAA0586):c.1253+3A>G
NM_014749.5(KIAA0586):c.3848_3849CT[2] (p.Met1286fs) rs867342730
NM_014749.5(KIAA0586):c.789dup (p.Gln264fs) rs1203751352
NM_014749.5(KIAA0586):c.94dup (p.His32fs) rs555421894

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.