ClinVar Miner

List of variants in gene DNAI1 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: 202
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HGVS dbSNP gnomAD frequency
NM_012144.4(DNAI1):c.297A>G (p.Gln99=) rs77344166 0.01778
NM_012144.4(DNAI1):c.47A>G (p.Gln16Arg) rs148701985 0.00146
NM_012144.4(DNAI1):c.1173C>G (p.Ile391Met) rs151097256 0.00063
NM_012144.4(DNAI1):c.1878G>A (p.Ala626=) rs146244319 0.00063
NM_012144.4(DNAI1):c.40C>T (p.His14Tyr) rs146501326 0.00059
NM_012144.4(DNAI1):c.1923C>T (p.His641=) rs145218397 0.00056
NM_012144.4(DNAI1):c.370C>T (p.Arg124Cys) rs116938457 0.00053
NM_012144.4(DNAI1):c.1145G>A (p.Ser382Asn) rs141690214 0.00048
NM_012144.4(DNAI1):c.389-1G>C rs200488444 0.00046
NM_012144.4(DNAI1):c.-41T>C rs200245894 0.00041
NM_012144.4(DNAI1):c.1948C>T (p.Arg650Cys) rs140820295 0.00034
NM_012144.4(DNAI1):c.551A>G (p.Lys184Arg) rs146203427 0.00032
NM_012144.4(DNAI1):c.1104C>T (p.Tyr368=) rs140711767 0.00029
NM_012144.4(DNAI1):c.1454C>T (p.Thr485Met) rs137935543 0.00020
NM_012144.4(DNAI1):c.180G>A (p.Ala60=) rs201120508 0.00020
NM_012144.4(DNAI1):c.1523T>C (p.Ile508Thr) rs148238282 0.00017
NM_012144.4(DNAI1):c.2045T>C (p.Ile682Thr) rs138460682 0.00017
NM_012144.4(DNAI1):c.520G>A (p.Glu174Lys) rs141157671 0.00017
NM_012144.4(DNAI1):c.356G>A (p.Arg119Gln) rs141704318 0.00014
NM_012144.4(DNAI1):c.1195G>A (p.Val399Met) rs150261456 0.00013
NM_012144.4(DNAI1):c.1001C>T (p.Ser334Phe) rs1451350869 0.00012
NM_012144.4(DNAI1):c.1929C>A (p.Ile643=) rs146434058 0.00012
NM_012144.4(DNAI1):c.48+3A>G rs771238788 0.00012
NM_012144.4(DNAI1):c.1019+7A>G rs200720794 0.00009
NM_012144.4(DNAI1):c.638C>T (p.Thr213Met) rs201754555 0.00009
NM_012144.4(DNAI1):c.1291C>G (p.His431Asp) rs756877115 0.00007
NM_012144.4(DNAI1):c.1822C>A (p.His608Asn) rs148762102 0.00007
NM_012144.4(DNAI1):c.672A>G (p.Thr224=) rs201101182 0.00007
NM_012144.4(DNAI1):c.1371C>T (p.Asp457=) rs113249236 0.00006
NM_012144.4(DNAI1):c.1407G>T (p.Lys469Asn) rs189377425 0.00006
NM_012144.4(DNAI1):c.1417A>G (p.Ile473Val) rs199774301 0.00006
NM_012144.4(DNAI1):c.341A>G (p.Asp114Gly) rs147909279 0.00006
NM_012144.4(DNAI1):c.358C>T (p.Arg120Trp) rs766328772 0.00006
NM_012144.4(DNAI1):c.566C>T (p.Thr189Ile) rs191840487 0.00006
NM_012144.4(DNAI1):c.1490G>A (p.Gly497Asp) rs376252276 0.00005
NM_012144.4(DNAI1):c.1999A>G (p.Lys667Glu) rs560719255 0.00005
NM_012144.4(DNAI1):c.2064G>A (p.Leu688=) rs750785483 0.00005
NM_012144.4(DNAI1):c.644C>T (p.Pro215Leu) rs755122846 0.00005
NM_012144.4(DNAI1):c.1155C>T (p.Gly385=) rs549401132 0.00004
NM_012144.4(DNAI1):c.1235A>G (p.Asn412Ser) rs1056525406 0.00004
NM_012144.4(DNAI1):c.1401+3G>A rs759795923 0.00004
NM_012144.4(DNAI1):c.1693G>A (p.Val565Met) rs139953639 0.00004
NM_012144.4(DNAI1):c.1913A>G (p.Asn638Ser) rs201773877 0.00004
NM_012144.4(DNAI1):c.335C>G (p.Pro112Arg) rs201313023 0.00004
NM_012144.4(DNAI1):c.371G>A (p.Arg124His) rs759257177 0.00004
NM_012144.4(DNAI1):c.501+10A>C rs765805502 0.00004
NM_012144.4(DNAI1):c.720G>T (p.Lys240Asn) rs999905460 0.00004
NM_012144.4(DNAI1):c.1109T>C (p.Leu370Pro) rs201677978 0.00003
NM_012144.4(DNAI1):c.1156G>A (p.Val386Ile) rs565923150 0.00003
NM_012144.4(DNAI1):c.1599C>T (p.Leu533=) rs150785761 0.00003
NM_012144.4(DNAI1):c.476G>A (p.Ser159Asn) rs149230619 0.00003
NM_012144.4(DNAI1):c.994C>A (p.Arg332Ser) rs182015909 0.00003
NM_012144.4(DNAI1):c.1987C>T (p.Arg663Cys) rs564706097 0.00002
NM_012144.4(DNAI1):c.355C>T (p.Arg119Trp) rs370391949 0.00002
NM_012144.4(DNAI1):c.48+6G>C rs962155265 0.00002
NM_012144.4(DNAI1):c.791G>A (p.Arg264Lys) rs755853256 0.00002
NM_012144.4(DNAI1):c.1020-14A>T rs777973486 0.00001
NM_012144.4(DNAI1):c.1084C>T (p.Arg362Trp) rs147893084 0.00001
NM_012144.4(DNAI1):c.1085G>A (p.Arg362Gln) rs372361587 0.00001
NM_012144.4(DNAI1):c.1088G>C (p.Gly363Ala) rs1470058689 0.00001
NM_012144.4(DNAI1):c.1384T>G (p.Ser462Ala) rs1437841728 0.00001
NM_012144.4(DNAI1):c.1395C>T (p.Leu465=) rs764446899 0.00001
NM_012144.4(DNAI1):c.1489+8C>A rs547508610 0.00001
NM_012144.4(DNAI1):c.1551G>A (p.Glu517=) rs751010917 0.00001
NM_012144.4(DNAI1):c.1603A>G (p.Thr535Ala) rs904725096 0.00001
NM_012144.4(DNAI1):c.1607A>G (p.Tyr536Cys) rs144611423 0.00001
NM_012144.4(DNAI1):c.1665C>T (p.Val555=) rs147469181 0.00001
NM_012144.4(DNAI1):c.169T>C (p.Leu57=) rs779175158 0.00001
NM_012144.4(DNAI1):c.1711A>G (p.Thr571Ala) rs1206542308 0.00001
NM_012144.4(DNAI1):c.1719-11C>T rs774758389 0.00001
NM_012144.4(DNAI1):c.1736A>G (p.Tyr579Cys) rs760852851 0.00001
NM_012144.4(DNAI1):c.1772C>T (p.Ala591Val) rs751197523 0.00001
NM_012144.4(DNAI1):c.181G>A (p.Glu61Lys) rs1354143118 0.00001
NM_012144.4(DNAI1):c.1941C>T (p.Gly647=) rs1022057422 0.00001
NM_012144.4(DNAI1):c.2029G>A (p.Gly677Ser) rs556105721 0.00001
NM_012144.4(DNAI1):c.203G>A (p.Arg68Gln) rs771320807 0.00001
NM_012144.4(DNAI1):c.2048C>T (p.Ala683Val) rs535760702 0.00001
NM_012144.4(DNAI1):c.359G>A (p.Arg120Gln) rs375547221 0.00001
NM_012144.4(DNAI1):c.385G>A (p.Ala129Thr) rs1403317407 0.00001
NM_012144.4(DNAI1):c.389-15C>T rs886063881 0.00001
NM_012144.4(DNAI1):c.389-6A>G rs878854966 0.00001
NM_012144.4(DNAI1):c.518C>T (p.Thr173Ile) rs1400236913 0.00001
NM_012144.4(DNAI1):c.550A>G (p.Lys184Glu) rs1236356655 0.00001
NM_012144.4(DNAI1):c.614C>G (p.Pro205Arg) rs752018316 0.00001
NM_012144.4(DNAI1):c.619C>T (p.Arg207Trp) rs749119217 0.00001
NM_012144.4(DNAI1):c.676A>C (p.Asn226His) rs769349211 0.00001
NM_012144.4(DNAI1):c.697G>A (p.Ala233Thr) rs747538328 0.00001
NM_012144.4(DNAI1):c.727A>G (p.Lys243Glu) rs775818668 0.00001
NM_012144.4(DNAI1):c.783G>A (p.Met261Ile) rs1299113119 0.00001
NM_012144.4(DNAI1):c.872A>G (p.Asn291Ser) rs1824742637 0.00001
NM_012144.4(DNAI1):c.902-8T>C rs755259202 0.00001
NM_012144.4(DNAI1):c.919G>A (p.Asp307Asn) rs773243879 0.00001
NC_000009.11:g.(?_34520636)_(34520754_?)dup
NM_012144.4(DNAI1):c.*163C>G rs1051948461
NM_012144.4(DNAI1):c.1003G>T (p.Val335Phe) rs11793196
NM_012144.4(DNAI1):c.1006A>T (p.Thr336Ser) rs1319380844
NM_012144.4(DNAI1):c.1046C>A (p.Ala349Glu)
NM_012144.4(DNAI1):c.1088G>A (p.Gly363Asp)
NM_012144.4(DNAI1):c.112G>A (p.Gly38Ser)
NM_012144.4(DNAI1):c.1132T>G (p.Tyr378Asp)
NM_012144.4(DNAI1):c.1152_1161delinsA (p.Ser384_Met387delinsArg) rs1824938179
NM_012144.4(DNAI1):c.1163G>A (p.Cys388Tyr) rs767667443
NM_012144.4(DNAI1):c.119A>G (p.Asp40Gly) rs553371109
NM_012144.4(DNAI1):c.1204G>A (p.Gly402Ser) rs746647838
NM_012144.4(DNAI1):c.1205G>A (p.Gly402Asp) rs138954776
NM_012144.4(DNAI1):c.1229T>C (p.Ile410Thr)
NM_012144.4(DNAI1):c.1253C>G (p.Ser418Cys)
NM_012144.4(DNAI1):c.1264T>C (p.Phe422Leu) rs1256336794
NM_012144.4(DNAI1):c.1265_1267del (p.Phe422del) rs567346433
NM_012144.4(DNAI1):c.1351_1352inv (p.Phe451Asn)
NM_012144.4(DNAI1):c.1352TCT[1] (p.Phe452del)
NM_012144.4(DNAI1):c.1358C>T (p.Ser453Phe) rs570528970
NM_012144.4(DNAI1):c.1366T>C (p.Ser456Pro)
NM_012144.4(DNAI1):c.1390A>G (p.Thr464Ala)
NM_012144.4(DNAI1):c.139G>A (p.Ala47Thr)
NM_012144.4(DNAI1):c.1401+3_1401+10del rs765551840
NM_012144.4(DNAI1):c.1469G>A (p.Gly490Glu)
NM_012144.4(DNAI1):c.1485A>G (p.Pro495=)
NM_012144.4(DNAI1):c.1489G>A (p.Gly497Ser) rs1212462636
NM_012144.4(DNAI1):c.1495G>A (p.Gly499Ser) rs1412970451
NM_012144.4(DNAI1):c.1538T>C (p.Leu513Pro) rs1554691352
NM_012144.4(DNAI1):c.1558A>G (p.Lys520Glu)
NM_012144.4(DNAI1):c.1574C>G (p.Ser525Cys)
NM_012144.4(DNAI1):c.1599C>A (p.Leu533=) rs150785761
NM_012144.4(DNAI1):c.1612G>A (p.Ala538Thr) rs368248592
NM_012144.4(DNAI1):c.1612G>T (p.Ala538Ser)
NM_012144.4(DNAI1):c.1623G>A (p.Met541Ile)
NM_012144.4(DNAI1):c.1636G>A (p.Val546Met)
NM_012144.4(DNAI1):c.1637T>C (p.Val546Ala)
NM_012144.4(DNAI1):c.164T>C (p.Leu55Pro)
NM_012144.4(DNAI1):c.1667T>C (p.Phe556Ser) rs1554691490
NM_012144.4(DNAI1):c.1676G>A (p.Cys559Tyr) rs1335386227
NM_012144.4(DNAI1):c.1684G>A (p.Asp562Asn)
NM_012144.4(DNAI1):c.1700T>C (p.Ile567Thr) rs1554691495
NM_012144.4(DNAI1):c.1719-3C>T
NM_012144.4(DNAI1):c.1724C>T (p.Pro575Leu)
NM_012144.4(DNAI1):c.1783T>C (p.Ser595Pro)
NM_012144.4(DNAI1):c.1787C>T (p.Thr596Ile) rs2132084252
NM_012144.4(DNAI1):c.178G>A (p.Ala60Thr)
NM_012144.4(DNAI1):c.180G>T (p.Ala60=) rs201120508
NM_012144.4(DNAI1):c.1813G>A (p.Gly605Arg)
NM_012144.4(DNAI1):c.1818+15C>A rs1825142151
NM_012144.4(DNAI1):c.1819-9T>G rs1587094351
NM_012144.4(DNAI1):c.1822C>T (p.His608Tyr)
NM_012144.4(DNAI1):c.1823A>C (p.His608Pro)
NM_012144.4(DNAI1):c.1825A>T (p.Ile609Leu) rs727502978
NM_012144.4(DNAI1):c.1921C>T (p.His641Tyr)
NM_012144.4(DNAI1):c.1925C>G (p.Pro642Arg)
NM_012144.4(DNAI1):c.1935T>G (p.Ile645Met) rs1393988058
NM_012144.4(DNAI1):c.196T>C (p.Phe66Leu)
NM_012144.4(DNAI1):c.1987C>G (p.Arg663Gly) rs564706097
NM_012144.4(DNAI1):c.2033C>T (p.Pro678Leu)
NM_012144.4(DNAI1):c.2035G>C (p.Ala679Pro) rs111887810
NM_012144.4(DNAI1):c.2074G>C (p.Val692Leu)
NM_012144.4(DNAI1):c.228C>A (p.His76Gln) rs760014707
NM_012144.4(DNAI1):c.22G>C (p.Ala8Pro) rs11547035
NM_012144.4(DNAI1):c.230C>T (p.Ala77Val)
NM_012144.4(DNAI1):c.244G>C (p.Val82Leu) rs1564031598
NM_012144.4(DNAI1):c.254G>C (p.Ser85Thr)
NM_012144.4(DNAI1):c.256T>C (p.Phe86Leu)
NM_012144.4(DNAI1):c.262-8C>A rs1824533419
NM_012144.4(DNAI1):c.302C>T (p.Ala101Val) rs1824534743
NM_012144.4(DNAI1):c.309C>T (p.His103=) rs1055150779
NM_012144.4(DNAI1):c.325A>G (p.Asn109Asp) rs1824535486
NM_012144.4(DNAI1):c.332T>G (p.Ile111Ser)
NM_012144.4(DNAI1):c.353G>T (p.Gly118Val)
NM_012144.4(DNAI1):c.366T>A (p.His122Gln) rs1060503514
NM_012144.4(DNAI1):c.373G>A (p.Asp125Asn)
NM_012144.4(DNAI1):c.389-4C>G rs767845991
NM_012144.4(DNAI1):c.409G>A (p.Val137Met)
NM_012144.4(DNAI1):c.419A>T (p.Glu140Val)
NM_012144.4(DNAI1):c.438A>C (p.Glu146Asp)
NM_012144.4(DNAI1):c.45G>T (p.Lys15Asn)
NM_012144.4(DNAI1):c.48+6G>A
NM_012144.4(DNAI1):c.485A>T (p.Asp162Val) rs1554687745
NM_012144.4(DNAI1):c.48G>T (p.Gln16His)
NM_012144.4(DNAI1):c.501G>T (p.Gly167=)
NM_012144.4(DNAI1):c.503C>A (p.Ala168Glu)
NM_012144.4(DNAI1):c.520GAA[2] (p.Glu176del) rs878854967
NM_012144.4(DNAI1):c.557G>A (p.Arg186Lys) rs1178602656
NM_012144.4(DNAI1):c.601A>T (p.Thr201Ser)
NM_012144.4(DNAI1):c.646C>T (p.Pro216Ser) rs1824592383
NM_012144.4(DNAI1):c.649C>G (p.Pro217Ala) rs886063882
NM_012144.4(DNAI1):c.658A>G (p.Asn220Asp)
NM_012144.4(DNAI1):c.710A>T (p.Glu237Val) rs1824644753
NM_012144.4(DNAI1):c.728A>C (p.Lys243Thr)
NM_012144.4(DNAI1):c.741G>T (p.Lys247Asn) rs562408105
NM_012144.4(DNAI1):c.763G>A (p.Ala255Thr)
NM_012144.4(DNAI1):c.780G>T (p.Lys260Asn) rs2132065479
NM_012144.4(DNAI1):c.787A>G (p.Met263Val) rs750194621
NM_012144.4(DNAI1):c.788T>C (p.Met263Thr) rs1228318421
NM_012144.4(DNAI1):c.7C>T (p.Pro3Ser)
NM_012144.4(DNAI1):c.803C>T (p.Ser268Phe) rs1824648112
NM_012144.4(DNAI1):c.82G>T (p.Asp28Tyr)
NM_012144.4(DNAI1):c.845C>A (p.Ala282Asp)
NM_012144.4(DNAI1):c.903T>G (p.Asp301Glu)
NM_012144.4(DNAI1):c.918C>G (p.Asp306Glu) rs772207177
NM_012144.4(DNAI1):c.937C>T (p.Arg313Trp)
NM_012144.4(DNAI1):c.944A>G (p.Gln315Arg)
NM_012144.4(DNAI1):c.956T>A (p.Leu319Gln)
NM_012144.4(DNAI1):c.980A>T (p.Asn327Ile)
NM_012144.4(DNAI1):c.98C>T (p.Thr33Ile) rs2132057312

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