ClinVar Miner

List of variants in gene KIAA0586 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_001329943.3(KIAA0586):c.2442+292T>C rs180724111 0.02045
NM_001329943.3(KIAA0586):c.807+308del rs141342684 0.01632
NM_001329943.3(KIAA0586):c.4430-208A>G rs74056201 0.01411
NM_001329943.3(KIAA0586):c.4430-171T>C rs74058003 0.01333
NM_001329943.3(KIAA0586):c.3719T>C (p.Leu1240Ser) rs190271845 0.01118
NM_001329943.3(KIAA0586):c.2553+99T>C rs117652755 0.01085
NM_001329943.3(KIAA0586):c.2060-140A>G rs28678666 0.01071
NM_001329943.3(KIAA0586):c.2553+11G>A rs78511804 0.01057
NM_001329943.3(KIAA0586):c.4168+150A>G rs2016069 0.01030
NM_001329943.3(KIAA0586):c.1657-297A>C rs17254437 0.00988
NM_001329943.3(KIAA0586):c.200-286C>T rs78665957 0.00975
NM_001329943.3(KIAA0586):c.1230A>G (p.Gly410=) rs10135645 0.00971
NM_001329943.3(KIAA0586):c.4169-180C>T rs142489427 0.00855
NM_001329943.3(KIAA0586):c.1254-144A>T rs115410683 0.00838
NM_001329943.3(KIAA0586):c.1363-239G>A rs193235347 0.00764
NM_001329943.3(KIAA0586):c.2059+97G>A rs149423262 0.00737
NM_001329943.3(KIAA0586):c.1097A>T (p.Glu366Val) rs59248588 0.00694
NM_001329943.3(KIAA0586):c.807+321T>C rs148059352 0.00683
NM_001329943.3(KIAA0586):c.1439C>T (p.Thr480Ile) rs61745119 0.00667
NM_001329943.3(KIAA0586):c.2060-52A>T rs76898260 0.00667
NM_001329943.3(KIAA0586):c.1056A>G (p.Ser352=) rs148006211 0.00463
NM_001329943.3(KIAA0586):c.1130-66G>A rs116254056 0.00416
NM_001329943.3(KIAA0586):c.4495+60G>A rs141835907 0.00363
NM_001329943.3(KIAA0586):c.3859-175T>C rs150034855 0.00347
NM_001329943.3(KIAA0586):c.1583+193G>A rs148891396 0.00315
NM_001329943.3(KIAA0586):c.3528-77G>A rs149080512 0.00315
NM_001329943.3(KIAA0586):c.1254-167A>G rs146137598 0.00314
NM_001329943.3(KIAA0586):c.3991-211A>C rs138383189 0.00314
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.410+231C>G rs183527882 0.00306
NM_001329943.3(KIAA0586):c.4495+173C>T rs190973993 0.00288
NM_001329943.3(KIAA0586):c.411-113A>G rs182002401 0.00282
NM_001329943.3(KIAA0586):c.4629G>A (p.Ser1543=) rs61745066 0.00272
NM_001329943.3(KIAA0586):c.4495+25T>C rs186254272 0.00267
NM_001329943.3(KIAA0586):c.1253+119G>T rs578185884 0.00259
NM_001329943.3(KIAA0586):c.4429+235T>C rs193150733 0.00255
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.4519G>A (p.Ala1507Thr) rs140026883 0.00196
NM_001329943.3(KIAA0586):c.698G>A (p.Arg233Lys) rs193056942 0.00184
NM_001329943.3(KIAA0586):c.3165G>A (p.Leu1055=) rs538248668 0.00156
NM_001329943.3(KIAA0586):c.1130-16A>C rs187748315 0.00149
NM_001329943.3(KIAA0586):c.182T>C (p.Leu61Ser) rs183168709 0.00119
NM_001329943.3(KIAA0586):c.4125A>G (p.Gln1375=) rs148016417 0.00119
NM_001329943.3(KIAA0586):c.600G>A (p.Leu200=) rs61738360 0.00090
NM_001329943.3(KIAA0586):c.3688T>C (p.Leu1230=) rs143158234 0.00053
NM_001329943.3(KIAA0586):c.2735C>T (p.Pro912Leu) rs139493302 0.00048
NM_001329943.3(KIAA0586):c.1130-28A>C rs146018355 0.00046
NM_001329943.3(KIAA0586):c.42T>A (p.Ile14=) rs554948147 0.00044
NM_001329943.3(KIAA0586):c.1129+11del rs142477754 0.00040
NM_001329943.3(KIAA0586):c.*2C>T rs376691503 0.00021
NM_001329943.3(KIAA0586):c.2163C>T (p.Gly721=) rs368904420 0.00017
NM_001329943.3(KIAA0586):c.2832G>A (p.Glu944=) rs373201020 0.00014
NM_001329943.3(KIAA0586):c.4449T>C (p.Asp1483=) rs538659713 0.00005
NM_001329943.3(KIAA0586):c.1543G>A (p.Ala515Thr) rs568910724 0.00004
NM_001329943.3(KIAA0586):c.3717T>G (p.Thr1239=) rs758690971 0.00001
NM_001329943.3(KIAA0586):c.-69C>T rs145502517
NM_001329943.3(KIAA0586):c.100G>T (p.Val34Phe) rs186659284
NM_001329943.3(KIAA0586):c.1129+257_1129+258del rs10712126
NM_001329943.3(KIAA0586):c.411-1495del rs71107949
NM_001329943.3(KIAA0586):c.411-1498_411-1495del rs71107949
NM_001329943.3(KIAA0586):c.4305C>G (p.Ala1435=) rs144692893
NM_001329943.3(KIAA0586):c.4430-3166A>C rs61974556
NM_001329943.3(KIAA0586):c.4495+3679C>T rs78858898

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