ClinVar Miner

List of variants in gene KIAA0586 reported as pathogenic for Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly

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Gene type:
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Total variants: 81
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HGVS dbSNP gnomAD frequency
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NM_001329943.3(KIAA0586):c.94dup (p.His32fs) rs555421894 0.00053
NM_001329943.3(KIAA0586):c.1254-1G>C rs757350052 0.00008
NM_001329943.3(KIAA0586):c.2536del (p.Val846fs) rs1307758243 0.00003
NM_001329943.3(KIAA0586):c.831C>T (p.Leu277=) rs780520735 0.00003
NM_001329943.3(KIAA0586):c.2353C>T (p.Arg785Ter) rs1064793157 0.00002
NM_001329943.3(KIAA0586):c.3144G>A (p.Pro1048=) rs540255320 0.00002
NM_001329943.3(KIAA0586):c.3580C>T (p.Gln1194Ter) rs373763986 0.00002
NM_001329943.3(KIAA0586):c.3668C>G (p.Ser1223Ter) rs776003330 0.00002
NM_001329943.3(KIAA0586):c.704_705del (p.Gln235fs) rs770566897 0.00002
NM_001329943.3(KIAA0586):c.1656G>A (p.Gln552=) rs762081862 0.00001
NM_001329943.3(KIAA0586):c.2050C>T (p.Arg684Ter) rs749475936 0.00001
NM_001329943.3(KIAA0586):c.2504_2508del (p.Leu835fs) rs1410766981 0.00001
NM_001329943.3(KIAA0586):c.3097dup (p.Ala1033fs) rs1364954371 0.00001
NM_001329943.3(KIAA0586):c.3700del (p.Val1234fs) rs1253807820 0.00001
NM_001329943.3(KIAA0586):c.4495+3777del rs1237632090 0.00001
NM_001329943.3(KIAA0586):c.4495+3785A>T rs942756021 0.00001
NC_000014.8:g.(?_58926541)_(58927898_?)del
NC_000014.8:g.(?_58938897)_(58941535_?)del
NC_000014.8:g.(?_58975253)_(58975447_?)del
NC_000014.9:g.(?_58443934)_(58450766_?)del
NM_001329943.3(KIAA0586):c.1075_1076del (p.Lys359fs) rs2140706563
NM_001329943.3(KIAA0586):c.1085del (p.Asn362fs)
NM_001329943.3(KIAA0586):c.1093del (p.Glu365fs) rs1232900431
NM_001329943.3(KIAA0586):c.1193del (p.Ser398fs)
NM_001329943.3(KIAA0586):c.126T>A (p.Cys42Ter) rs1301378192
NM_001329943.3(KIAA0586):c.12dup (p.Glu5Ter)
NM_001329943.3(KIAA0586):c.1342_1345del (p.Glu448fs)
NM_001329943.3(KIAA0586):c.134_137dup (p.Leu47fs)
NM_001329943.3(KIAA0586):c.1466_1476del (p.Lys489fs) rs2140844892
NM_001329943.3(KIAA0586):c.1645del (p.Ala549fs)
NM_001329943.3(KIAA0586):c.1654C>T (p.Gln552Ter)
NM_001329943.3(KIAA0586):c.1667dup (p.Arg557fs) rs2140873534
NM_001329943.3(KIAA0586):c.1708C>T (p.Gln570Ter) rs2040187420
NM_001329943.3(KIAA0586):c.1743dup (p.Ile582fs)
NM_001329943.3(KIAA0586):c.1804C>T (p.Gln602Ter) rs1566827747
NM_001329943.3(KIAA0586):c.1872del (p.Glu625fs) rs2140875258
NM_001329943.3(KIAA0586):c.1892dup (p.Leu631fs)
NM_001329943.3(KIAA0586):c.1927_1928del (p.Met643fs)
NM_001329943.3(KIAA0586):c.1935del (p.Val646fs) rs2140886312
NM_001329943.3(KIAA0586):c.2047_2048del (p.Glu683fs) rs2140887842
NM_001329943.3(KIAA0586):c.2257C>T (p.Gln753Ter)
NM_001329943.3(KIAA0586):c.235C>T (p.Gln79Ter)
NM_001329943.3(KIAA0586):c.2405del (p.Lys802fs)
NM_001329943.3(KIAA0586):c.25G>T (p.Glu9Ter) rs2140372917
NM_001329943.3(KIAA0586):c.2800del (p.Thr934fs)
NM_001329943.3(KIAA0586):c.2810del (p.Asn937fs)
NM_001329943.3(KIAA0586):c.3173del (p.Pro1058fs)
NM_001329943.3(KIAA0586):c.3211A>T (p.Lys1071Ter)
NM_001329943.3(KIAA0586):c.3341dup (p.Thr1115fs)
NM_001329943.3(KIAA0586):c.3353del (p.Pro1118fs) rs2141193077
NM_001329943.3(KIAA0586):c.3481G>T (p.Glu1161Ter)
NM_001329943.3(KIAA0586):c.3638del (p.Pro1213fs) rs2141202895
NM_001329943.3(KIAA0586):c.3718_3719del (p.Leu1240fs)
NM_001329943.3(KIAA0586):c.3793dup (p.Ile1265fs)
NM_001329943.3(KIAA0586):c.3804C>G (p.Tyr1268Ter)
NM_001329943.3(KIAA0586):c.38del (p.Lys13fs) rs745949846
NM_001329943.3(KIAA0586):c.38dup (p.Ile14fs) rs745949846
NM_001329943.3(KIAA0586):c.4012G>T (p.Glu1338Ter)
NM_001329943.3(KIAA0586):c.4077del (p.Leu1360fs) rs762932867
NM_001329943.3(KIAA0586):c.4080_4081del (p.Met1362fs) rs867342730
NM_001329943.3(KIAA0586):c.411-1371G>A rs2038350104
NM_001329943.3(KIAA0586):c.411-1455_411-1454insGG
NM_001329943.3(KIAA0586):c.4208_4209del (p.Met1403fs)
NM_001329943.3(KIAA0586):c.4225del (p.Glu1409fs) rs2141430525
NM_001329943.3(KIAA0586):c.4321C>T (p.Gln1441Ter)
NM_001329943.3(KIAA0586):c.4350dup (p.Lys1451Ter)
NM_001329943.3(KIAA0586):c.4373C>G (p.Ser1458Ter)
NM_001329943.3(KIAA0586):c.4377_4378del (p.Ser1460fs)
NM_001329943.3(KIAA0586):c.4420C>T (p.Gln1474Ter)
NM_001329943.3(KIAA0586):c.4456C>T (p.Gln1486Ter) rs2140098022
NM_001329943.3(KIAA0586):c.4495+3755del rs2140128017
NM_001329943.3(KIAA0586):c.4495+3767A>T rs2140128191
NM_001329943.3(KIAA0586):c.465del (p.Gly156fs)
NM_001329943.3(KIAA0586):c.622dup (p.Thr208fs) rs2140565674
NM_001329943.3(KIAA0586):c.653_663del (p.Asp218fs)
NM_001329943.3(KIAA0586):c.730G>T (p.Glu244Ter) rs376338487
NM_001329943.3(KIAA0586):c.789dup (p.Gln264fs) rs1203751352
NM_001329943.3(KIAA0586):c.938del (p.Tyr313fs) rs2140664007
NM_001329943.3(KIAA0586):c.939dup (p.Asn314Ter)
NM_001329943.3(KIAA0586):c.961+1G>A

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