ClinVar Miner

List of variants in gene KIAA0586 reported as benign for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 56
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001329943.3(KIAA0586):c.1119G>A (p.Ser373=) rs1748971 0.99666
NM_001329943.3(KIAA0586):c.3166C>G (p.Pro1056Ala) rs1617510 0.97670
NM_001329943.3(KIAA0586):c.1254-25G>A rs1743721 0.97577
NM_001329943.3(KIAA0586):c.2254+25A>G rs1743716 0.97575
NM_001329943.3(KIAA0586):c.2528T>C (p.Leu843Pro) rs1748986 0.97574
NM_001329943.3(KIAA0586):c.4495+3795T>C rs28535751 0.42605
NM_001329943.3(KIAA0586):c.4461T>C (p.Ile1487=) rs11611 0.02142
NM_001329943.3(KIAA0586):c.4560G>A (p.Pro1520=) rs45568037 0.01255
NM_001329943.3(KIAA0586):c.2060-3T>C rs17094553 0.01209
NM_001329943.3(KIAA0586):c.3719T>C (p.Leu1240Ser) rs190271845 0.01118
NM_001329943.3(KIAA0586):c.2553+11G>A rs78511804 0.01083
NM_001329943.3(KIAA0586):c.1230A>G (p.Gly410=) rs10135645 0.01047
NM_001329943.3(KIAA0586):c.3920A>G (p.Asp1307Gly) rs3783697 0.00806
NM_001329943.3(KIAA0586):c.1097A>T (p.Glu366Val) rs59248588 0.00694
NM_001329943.3(KIAA0586):c.257T>C (p.Met86Thr) rs74055693 0.00689
NM_001329943.3(KIAA0586):c.1439C>T (p.Thr480Ile) rs61745119 0.00667
NM_001329943.3(KIAA0586):c.422T>C (p.Met141Thr) rs61735931 0.00533
NM_001329943.3(KIAA0586):c.1056A>G (p.Ser352=) rs148006211 0.00501
NM_001329943.3(KIAA0586):c.4047G>A (p.Ala1349=) rs61729923 0.00314
NM_001329943.3(KIAA0586):c.1570T>A (p.Leu524Ile) rs61742715 0.00313
NM_001329943.3(KIAA0586):c.4629G>A (p.Ser1543=) rs61745066 0.00272
NM_001329943.3(KIAA0586):c.974A>T (p.Glu325Val) rs144456198 0.00204
NM_001329943.3(KIAA0586):c.3283A>C (p.Lys1095Gln) rs140565291 0.00202
NM_001329943.3(KIAA0586):c.4496-16C>T rs111487478 0.00195
NM_001329943.3(KIAA0586):c.698G>A (p.Arg233Lys) rs193056942 0.00184
NM_001329943.3(KIAA0586):c.4125A>G (p.Gln1375=) rs148016417 0.00128
NM_001329943.3(KIAA0586):c.1130-16A>C rs187748315 0.00105
NM_001329943.3(KIAA0586):c.200-14C>A rs373882617 0.00098
NM_001329943.3(KIAA0586):c.600G>A (p.Leu200=) rs61738360 0.00098
NM_001329943.3(KIAA0586):c.340+15T>C rs139305633 0.00096
NM_001329943.3(KIAA0586):c.1583+15G>A rs201295491 0.00061
NM_001329943.3(KIAA0586):c.2944+8A>C rs571616049 0.00054
NM_001329943.3(KIAA0586):c.1129+11del rs142477754 0.00040
NM_001329943.3(KIAA0586):c.3104G>A (p.Gly1035Asp) rs77860620 0.00039
NM_001329943.3(KIAA0586):c.4311A>G (p.Glu1437=) rs536603405 0.00037
NM_001329943.3(KIAA0586):c.2735C>T (p.Pro912Leu) rs139493302 0.00029
NM_001329943.3(KIAA0586):c.202T>A (p.Ser68Thr) rs147119902 0.00026
NM_001329943.3(KIAA0586):c.1240G>A (p.Glu414Lys) rs147844088 0.00015
NM_001329943.3(KIAA0586):c.42T>A (p.Ile14=) rs554948147 0.00011
NM_001329943.3(KIAA0586):c.3774C>G (p.Ala1258=) rs199982600 0.00005
NM_001329943.3(KIAA0586):c.1543G>A (p.Ala515Thr) rs568910724 0.00004
NM_001329943.3(KIAA0586):c.1323C>T (p.Asp441=) rs574658488 0.00001
NM_001329943.3(KIAA0586):c.4495+3802G>A rs541632685 0.00001
NM_001329943.3(KIAA0586):c.100G>T (p.Val34Phe) rs186659284
NM_001329943.3(KIAA0586):c.1584-5del
NM_001329943.3(KIAA0586):c.199+23del rs537837939
NM_001329943.3(KIAA0586):c.2944+24dup rs768128741
NM_001329943.3(KIAA0586):c.2945-9del
NM_001329943.3(KIAA0586):c.3144+15del
NM_001329943.3(KIAA0586):c.3165_3166delinsAG (p.Pro1056Ala) rs386777947
NM_001329943.3(KIAA0586):c.3305-8dup rs5808973
NM_001329943.3(KIAA0586):c.3305-9_3305-8dup rs5808973
NM_001329943.3(KIAA0586):c.340+25dup rs770708728
NM_001329943.3(KIAA0586):c.340+6del
NM_001329943.3(KIAA0586):c.567C>T (p.Thr189=)
NM_001329943.3(KIAA0586):c.962-10dup rs1431902070

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.