ClinVar Miner

List of variants in gene DNAI2 reported as uncertain significance for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 209
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HGVS dbSNP gnomAD frequency
NM_023036.6(DNAI2):c.759G>A (p.Ala253=) rs142656395 0.00370
NM_023036.6(DNAI2):c.468-4G>T rs146462823 0.00321
NM_023036.6(DNAI2):c.*299A>G rs189443329 0.00213
NM_023036.6(DNAI2):c.1408G>A (p.Gly470Ser) rs115299472 0.00205
NM_023036.6(DNAI2):c.598A>C (p.Ile200Leu) rs144786630 0.00121
NM_023036.6(DNAI2):c.197G>T (p.Arg66Leu) rs147470752 0.00092
NM_023036.6(DNAI2):c.754G>A (p.Val252Met) rs140326154 0.00087
NM_023036.6(DNAI2):c.1715C>T (p.Pro572Leu) rs151241589 0.00081
NM_023036.6(DNAI2):c.1188G>A (p.Arg396=) rs139935771 0.00066
NM_023036.6(DNAI2):c.1533G>T (p.Glu511Asp) rs150710001 0.00050
NM_023036.6(DNAI2):c.1380G>T (p.Val460=) rs148947094 0.00043
NM_023036.6(DNAI2):c.1574C>T (p.Ala525Val) rs145602856 0.00036
NM_023036.6(DNAI2):c.828G>A (p.Thr276=) rs149918986 0.00029
NM_023036.6(DNAI2):c.1065G>A (p.Lys355=) rs551163932 0.00025
NM_023036.6(DNAI2):c.854C>T (p.Thr285Met) rs141079076 0.00024
NM_023036.6(DNAI2):c.1599C>T (p.Thr533=) rs139915367 0.00022
NM_023036.6(DNAI2):c.1723-1G>T rs201909971 0.00021
NM_023036.6(DNAI2):c.571C>T (p.Pro191Ser) rs201457010 0.00021
NM_023036.6(DNAI2):c.1629G>A (p.Ala543=) rs201925425 0.00019
NM_023036.6(DNAI2):c.1804G>A (p.Glu602Lys) rs532046902 0.00019
NM_023036.6(DNAI2):c.1146G>A (p.Thr382=) rs142571722 0.00016
NM_023036.6(DNAI2):c.1040G>A (p.Arg347His) rs138489039 0.00014
NM_023036.6(DNAI2):c.1202T>C (p.Met401Thr) rs146769635 0.00014
NM_023036.6(DNAI2):c.1615G>A (p.Val539Ile) rs199817659 0.00014
NM_023036.6(DNAI2):c.1776G>A (p.Ala592=) rs200861036 0.00011
NM_023036.6(DNAI2):c.319G>A (p.Val107Ile) rs200358267 0.00011
NM_023036.6(DNAI2):c.-21C>T rs753355539 0.00010
NM_023036.6(DNAI2):c.1318G>C (p.Glu440Gln) rs182986650 0.00010
NM_023036.6(DNAI2):c.196C>T (p.Arg66Trp) rs371226659 0.00010
NM_023036.6(DNAI2):c.1698C>T (p.Asp566=) rs142710343 0.00009
NM_023036.6(DNAI2):c.855G>A (p.Thr285=) rs144909415 0.00008
NM_023036.6(DNAI2):c.134A>G (p.Asn45Ser) rs148073122 0.00007
NM_023036.6(DNAI2):c.284G>A (p.Arg95His) rs201521142 0.00007
NM_023036.6(DNAI2):c.610+12C>T rs374447879 0.00007
NM_023036.6(DNAI2):c.-17C>A rs754497256 0.00006
NM_023036.6(DNAI2):c.1000A>G (p.Met334Val) rs779742315 0.00006
NM_023036.6(DNAI2):c.115G>A (p.Glu39Lys) rs148885547 0.00006
NM_023036.6(DNAI2):c.1517G>A (p.Arg506Gln) rs758710603 0.00006
NM_023036.6(DNAI2):c.1552C>T (p.Arg518Trp) rs377582813 0.00006
NM_023036.6(DNAI2):c.1712C>T (p.Thr571Met) rs373090022 0.00006
NM_023036.6(DNAI2):c.1165C>T (p.Arg389Cys) rs375896715 0.00005
NM_023036.6(DNAI2):c.146C>T (p.Thr49Met) rs374715330 0.00005
NM_023036.6(DNAI2):c.467+3A>G rs751915388 0.00005
NM_023036.6(DNAI2):c.531G>T (p.Lys177Asn) rs776667942 0.00005
NM_023036.6(DNAI2):c.1142T>C (p.Leu381Pro) rs373836524 0.00004
NM_023036.6(DNAI2):c.1194G>A (p.Ser398=) rs556547267 0.00004
NM_023036.6(DNAI2):c.1260G>A (p.Pro420=) rs200043910 0.00004
NM_023036.6(DNAI2):c.1327G>A (p.Asp443Asn) rs368225621 0.00004
NM_023036.6(DNAI2):c.1375C>T (p.Arg459Trp) rs1305647043 0.00004
NM_023036.6(DNAI2):c.1494C>T (p.Ser498=) rs761516740 0.00004
NM_023036.6(DNAI2):c.325G>A (p.Ala109Thr) rs192790912 0.00004
NM_023036.6(DNAI2):c.535G>T (p.Ala179Ser) rs749303157 0.00004
NM_023036.6(DNAI2):c.565C>T (p.Arg189Trp) rs138885031 0.00004
NM_023036.6(DNAI2):c.663G>A (p.Thr221=) rs368232107 0.00004
NM_023036.6(DNAI2):c.891G>A (p.Met297Ile) rs750750518 0.00004
NM_023036.6(DNAI2):c.*138C>A rs140358589 0.00003
NM_023036.6(DNAI2):c.11T>C (p.Val4Ala) rs772185024 0.00003
NM_023036.6(DNAI2):c.1683G>A (p.Lys561=) rs767757416 0.00003
NM_023036.6(DNAI2):c.289C>T (p.Arg97Trp) rs1162719665 0.00003
NM_023036.6(DNAI2):c.317A>T (p.Tyr106Phe) rs761389658 0.00003
NM_023036.6(DNAI2):c.487A>G (p.Arg163Gly) rs753284790 0.00003
NM_023036.6(DNAI2):c.589G>A (p.Asp197Asn) rs761171314 0.00003
NM_023036.6(DNAI2):c.864+4C>T rs773061334 0.00003
NM_023036.6(DNAI2):c.*19G>A rs757199467 0.00002
NM_023036.6(DNAI2):c.1105G>A (p.Ala369Thr) rs1263482357 0.00002
NM_023036.6(DNAI2):c.290G>A (p.Arg97Gln) rs775926673 0.00002
NM_023036.6(DNAI2):c.409G>A (p.Glu137Lys) rs112650114 0.00002
NM_023036.6(DNAI2):c.566G>A (p.Arg189Gln) rs552610697 0.00002
NM_023036.6(DNAI2):c.788G>A (p.Arg263Gln) rs768312326 0.00002
NM_023036.6(DNAI2):c.85A>G (p.Ile29Val) rs747104814 0.00002
NM_023036.6(DNAI2):c.922A>G (p.Ile308Val) rs374277039 0.00002
NM_023036.6(DNAI2):c.-22G>A rs551715321 0.00001
NM_023036.6(DNAI2):c.110T>C (p.Leu37Pro) rs2051413297 0.00001
NM_023036.6(DNAI2):c.1347+6G>A rs769832640 0.00001
NM_023036.6(DNAI2):c.1415A>G (p.Gln472Arg) rs765028301 0.00001
NM_023036.6(DNAI2):c.1543C>T (p.Arg515Trp) rs748717910 0.00001
NM_023036.6(DNAI2):c.1602T>C (p.Asp534=) rs376541043 0.00001
NM_023036.6(DNAI2):c.1619A>T (p.Asp540Val) rs794727074 0.00001
NM_023036.6(DNAI2):c.1699G>A (p.Ala567Thr) rs778391861 0.00001
NM_023036.6(DNAI2):c.215G>A (p.Arg72Gln) rs200668134 0.00001
NM_023036.6(DNAI2):c.265G>A (p.Glu89Lys) rs1200979339 0.00001
NM_023036.6(DNAI2):c.318C>T (p.Tyr106=) rs764812763 0.00001
NM_023036.6(DNAI2):c.380T>C (p.Ile127Thr) rs372975955 0.00001
NM_023036.6(DNAI2):c.43G>A (p.Gly15Arg) rs758997612 0.00001
NM_023036.6(DNAI2):c.467+5C>T rs529401265 0.00001
NM_023036.6(DNAI2):c.521G>A (p.Gly174Asp) rs978797882 0.00001
NM_023036.6(DNAI2):c.725-2A>C rs1448501611 0.00001
NM_023036.6(DNAI2):c.866T>C (p.Val289Ala) rs761883293 0.00001
NM_023036.6(DNAI2):c.947A>T (p.Asn316Ile) rs774323743 0.00001
NM_023036.6(DNAI2):c.978A>T (p.Glu326Asp) rs763193003 0.00001
NC_000017.10:g.(?_72277937)_(72310375_?)dup
NC_000017.10:g.(?_72277946)_(72310410_?)dup
NC_000017.10:g.(?_72277957)_(72310355_?)dup
NM_023036.6(DNAI2):c.*272C>G rs886053380
NM_023036.6(DNAI2):c.*339C>T rs2053734425
NM_023036.6(DNAI2):c.-21C>A rs753355539
NM_023036.6(DNAI2):c.-4C>T rs757989808
NM_023036.6(DNAI2):c.1039C>T (p.Arg347Cys)
NM_023036.6(DNAI2):c.103C>G (p.Pro35Ala)
NM_023036.6(DNAI2):c.1040G>C (p.Arg347Pro) rs138489039
NM_023036.6(DNAI2):c.1052C>T (p.Thr351Met)
NM_023036.6(DNAI2):c.1069G>A (p.Val357Met)
NM_023036.6(DNAI2):c.1096C>G (p.Pro366Ala)
NM_023036.6(DNAI2):c.1103A>G (p.Tyr368Cys)
NM_023036.6(DNAI2):c.1130C>A (p.Pro377Gln) rs199726930
NM_023036.6(DNAI2):c.1130C>T (p.Pro377Leu) rs199726930
NM_023036.6(DNAI2):c.1147G>C (p.Val383Leu)
NM_023036.6(DNAI2):c.1153G>A (p.Asp385Asn) rs567531807
NM_023036.6(DNAI2):c.1163C>A (p.Ala388Asp)
NM_023036.6(DNAI2):c.1165C>G (p.Arg389Gly) rs375896715
NM_023036.6(DNAI2):c.1177G>A (p.Glu393Lys) rs1204464128
NM_023036.6(DNAI2):c.1193C>T (p.Ser398Leu)
NM_023036.6(DNAI2):c.1199T>A (p.Ile400Asn)
NM_023036.6(DNAI2):c.119A>G (p.Gln40Arg) rs1060502200
NM_023036.6(DNAI2):c.120G>T (p.Gln40His) rs1274866190
NM_023036.6(DNAI2):c.1213T>A (p.Tyr405Asn)
NM_023036.6(DNAI2):c.123C>T (p.Phe41=) rs542439989
NM_023036.6(DNAI2):c.1248C>T (p.Ser416=) rs886053378
NM_023036.6(DNAI2):c.1252G>A (p.Val418Met) rs564337753
NM_023036.6(DNAI2):c.1259C>T (p.Pro420Leu)
NM_023036.6(DNAI2):c.1309T>A (p.Phe437Ile)
NM_023036.6(DNAI2):c.1309T>C (p.Phe437Leu)
NM_023036.6(DNAI2):c.130C>T (p.Arg44Trp)
NM_023036.6(DNAI2):c.1348-14G>A
NM_023036.6(DNAI2):c.1348-15C>G rs755825865
NM_023036.6(DNAI2):c.1348-3T>C
NM_023036.6(DNAI2):c.1348-4A>G
NM_023036.6(DNAI2):c.1368C>A (p.Phe456Leu)
NM_023036.6(DNAI2):c.1376G>A (p.Arg459Gln)
NM_023036.6(DNAI2):c.1401C>G (p.Ile467Met) rs371989598
NM_023036.6(DNAI2):c.1402G>A (p.Ala468Thr)
NM_023036.6(DNAI2):c.1455C>G (p.Leu485=) rs901923607
NM_023036.6(DNAI2):c.1489T>A (p.Ser497Thr) rs776297555
NM_023036.6(DNAI2):c.1494+10G>A
NM_023036.6(DNAI2):c.1495-3C>T rs555938890
NM_023036.6(DNAI2):c.1504C>T (p.Arg502Cys)
NM_023036.6(DNAI2):c.1544G>A (p.Arg515Gln)
NM_023036.6(DNAI2):c.1553G>A (p.Arg518Gln)
NM_023036.6(DNAI2):c.1567G>T (p.Gly523Cys) rs2053558785
NM_023036.6(DNAI2):c.1571A>G (p.Lys524Arg) rs1211582211
NM_023036.6(DNAI2):c.1600G>A (p.Asp534Asn) rs538543314
NM_023036.6(DNAI2):c.1628C>T (p.Ala543Val)
NM_023036.6(DNAI2):c.1644C>T (p.Ala548=) rs9908476
NM_023036.6(DNAI2):c.1645G>A (p.Glu549Lys)
NM_023036.6(DNAI2):c.1645GAG[2] (p.Glu551del)
NM_023036.6(DNAI2):c.1660G>C (p.Asp554His) rs117932646
NM_023036.6(DNAI2):c.1663A>G (p.Ile555Val) rs146727740
NM_023036.6(DNAI2):c.1700C>A (p.Ala567Asp)
NM_023036.6(DNAI2):c.170T>C (p.Met57Thr)
NM_023036.6(DNAI2):c.1722+1G>A rs2053569243
NM_023036.6(DNAI2):c.1737AGA[2] (p.Glu581del) rs886053379
NM_023036.6(DNAI2):c.173C>T (p.Ser58Leu)
NM_023036.6(DNAI2):c.1743A>C (p.Glu581Asp)
NM_023036.6(DNAI2):c.1762G>A (p.Gly588Arg)
NM_023036.6(DNAI2):c.1786G>A (p.Gly596Arg) rs1486049035
NM_023036.6(DNAI2):c.184-15C>A rs774597549
NM_023036.6(DNAI2):c.197G>A (p.Arg66Gln)
NM_023036.6(DNAI2):c.204G>C (p.Glu68Asp) rs1400041025
NM_023036.6(DNAI2):c.215G>T (p.Arg72Leu)
NM_023036.6(DNAI2):c.225C>G (p.Asn75Lys) rs2143902905
NM_023036.6(DNAI2):c.253G>A (p.Val85Met)
NM_023036.6(DNAI2):c.296A>C (p.Lys99Thr) rs200125805
NM_023036.6(DNAI2):c.32G>A (p.Arg11His)
NM_023036.6(DNAI2):c.335A>G (p.Gln112Arg) rs2051638403
NM_023036.6(DNAI2):c.336G>T (p.Gln112His)
NM_023036.6(DNAI2):c.337C>T (p.Leu113Phe)
NM_023036.6(DNAI2):c.340G>A (p.Gly114Ser) rs764225804
NM_023036.6(DNAI2):c.341G>T (p.Gly114Val) rs1271406619
NM_023036.6(DNAI2):c.344C>A (p.Ser115Tyr)
NM_023036.6(DNAI2):c.371A>C (p.Asn124Thr)
NM_023036.6(DNAI2):c.39G>A (p.Glu13=) rs533814143
NM_023036.6(DNAI2):c.404A>G (p.Asn135Ser)
NM_023036.6(DNAI2):c.408C>A (p.Asp136Glu) rs770624431
NM_023036.6(DNAI2):c.410A>C (p.Glu137Ala)
NM_023036.6(DNAI2):c.467+6G>A rs1486894999
NM_023036.6(DNAI2):c.502C>T (p.Leu168Phe)
NM_023036.6(DNAI2):c.50A>C (p.Gln17Pro)
NM_023036.6(DNAI2):c.517G>A (p.Asp173Asn)
NM_023036.6(DNAI2):c.523A>C (p.Asn175His)
NM_023036.6(DNAI2):c.527_529delinsTAGTGAGACTTCATTTCTACACTTTTTTTTTAATTACCC (p.Arg176_Lys177delinsIleValArgLeuHisPheTyrThrPhePheLeuIleThrGln) rs2143941130
NM_023036.6(DNAI2):c.579C>T (p.Gly193=)
NM_023036.6(DNAI2):c.587G>A (p.Ser196Asn) rs1567850585
NM_023036.6(DNAI2):c.609G>A (p.Leu203=) rs2143941710
NM_023036.6(DNAI2):c.611-3T>C rs886053377
NM_023036.6(DNAI2):c.611-5T>G
NM_023036.6(DNAI2):c.618CAA[1] (p.Asn207del)
NM_023036.6(DNAI2):c.631C>A (p.Leu211Ile)
NM_023036.6(DNAI2):c.638T>G (p.Leu213Arg) rs1060502201
NM_023036.6(DNAI2):c.658G>A (p.Val220Met)
NM_023036.6(DNAI2):c.680A>G (p.Lys227Arg)
NM_023036.6(DNAI2):c.691G>A (p.Val231Ile)
NM_023036.6(DNAI2):c.701G>A (p.Gly234Asp) rs897911822
NM_023036.6(DNAI2):c.704G>T (p.Gly235Val)
NM_023036.6(DNAI2):c.70C>G (p.Gln24Glu) rs777662498
NM_023036.6(DNAI2):c.712A>G (p.Asn238Asp)
NM_023036.6(DNAI2):c.760G>A (p.Glu254Lys)
NM_023036.6(DNAI2):c.773T>C (p.Ile258Thr)
NM_023036.6(DNAI2):c.781A>G (p.Ser261Gly)
NM_023036.6(DNAI2):c.787C>G (p.Arg263Gly) rs137852998
NM_023036.6(DNAI2):c.793C>T (p.Pro265Ser)
NM_023036.6(DNAI2):c.810C>G (p.Ile270Met) rs2052655463
NM_023036.6(DNAI2):c.853A>G (p.Thr285Ala)
NM_023036.6(DNAI2):c.884G>A (p.Arg295Gln)
NM_023036.6(DNAI2):c.892A>C (p.Ser298Arg) rs2144035001
NM_023036.6(DNAI2):c.900_905del (p.Thr301_Glu302del) rs2144035143
NM_023036.6(DNAI2):c.95T>A (p.Met32Lys)
NM_023036.6(DNAI2):c.965C>A (p.Ser322Tyr) rs2052738856
NM_023036.6(DNAI2):c.973T>A (p.Phe325Ile)
NM_023036.6(DNAI2):c.982A>G (p.Thr328Ala) rs2052739853

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