ClinVar Miner

List of variants in gene KIAA0586 studied for Joubert syndrome 23

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 76
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HGVS dbSNP
NC_000014.9:g.(?_58443934)_(58450766_?)del
NC_000014.9:g.(?_58448320)_(58450766_?)dup
NM_001244189.2(KIAA0586):c.5T>G (p.Phe2Cys)
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.1097A>T (p.Glu366Val) rs59248588
NM_001329943.3(KIAA0586):c.1230A>G (p.Gly410=) rs10135645
NM_001329943.3(KIAA0586):c.1253+3A>G rs762698768
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.1568C>T (p.Ala523Val) rs556274091
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.15G>C (p.Glu5Asp) rs199554737
NM_001329943.3(KIAA0586):c.1656+7C>A rs777449141
NM_001329943.3(KIAA0586):c.1804C>T (p.Gln602Ter) rs1566827747
NM_001329943.3(KIAA0586):c.182T>C (p.Leu61Ser) rs183168709
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.2528T>C (p.Leu843Pro) rs1748986
NM_001329943.3(KIAA0586):c.2553G>A (p.Lys851=)
NM_001329943.3(KIAA0586):c.257T>C (p.Met86Thr) rs74055693
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.3283A>C (p.Lys1095Gln) rs140565291
NM_001329943.3(KIAA0586):c.3553G>A (p.Glu1185Lys) rs200722491
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.3668C>G (p.Ser1223Ter)
NM_001329943.3(KIAA0586):c.3688T>C (p.Leu1230=) rs143158234
NM_001329943.3(KIAA0586):c.3719T>C (p.Leu1240Ser) rs190271845
NM_001329943.3(KIAA0586):c.3739G>A (p.Gly1247Arg) rs1595348112
NM_001329943.3(KIAA0586):c.3781+2T>C rs1331480187
NM_001329943.3(KIAA0586):c.3781+8A>G rs368737744
NM_001329943.3(KIAA0586):c.3799C>G (p.Leu1267Val) rs1425457941
NM_001329943.3(KIAA0586):c.3861G>A (p.Glu1287=) rs188676684
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) rs201929144
NM_001329943.3(KIAA0586):c.4032del (p.Arg1344fs) rs886039809
NM_001329943.3(KIAA0586):c.4047G>A (p.Ala1349=) rs61729923
NM_001329943.3(KIAA0586):c.4076_4077CT[2] (p.Met1362fs) rs867342730
NM_001329943.3(KIAA0586):c.4125A>G (p.Gln1375=) rs148016417
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.42T>A (p.Ile14=) rs554948147
NM_001329943.3(KIAA0586):c.4404T>C (p.Ser1468=) rs774903272
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.4519G>A (p.Ala1507Thr) rs140026883
NM_001329943.3(KIAA0586):c.4560G>A (p.Pro1520=) rs45568037
NM_001329943.3(KIAA0586):c.4629G>A (p.Ser1543=) rs61745066
NM_001329943.3(KIAA0586):c.4646G>A (p.Ter1549=) rs758764999
NM_001329943.3(KIAA0586):c.643C>T (p.Gln215Ter) rs201097695
NM_001329943.3(KIAA0586):c.657A>G (p.Lys219=) rs533752814
NM_001329943.3(KIAA0586):c.698G>A (p.Arg233Lys) rs193056942
NM_001329943.3(KIAA0586):c.704_705del (p.Gln235fs) rs770566897
NM_001329943.3(KIAA0586):c.789dup (p.Gln264fs) rs1203751352
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.94dup (p.His32fs) rs555421894
NM_001329943.3(KIAA0586):c.974A>T (p.Glu325Val) rs144456198

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