ClinVar Miner

List of variants in gene TMEM237 reported as uncertain significance for Joubert syndrome

Included ClinVar conditions (97):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 237
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HGVS dbSNP gnomAD frequency
NM_001044385.3(TMEM237):c.*962A>C rs142403941 0.00462
NM_001044385.3(TMEM237):c.*969A>G rs137925244 0.00461
NM_001044385.3(TMEM237):c.*308T>G rs185380807 0.00163
NM_001044385.3(TMEM237):c.348G>A (p.Ala116=) rs191125006 0.00163
NM_001044385.3(TMEM237):c.*3855A>G rs187328136 0.00156
NM_001044385.3(TMEM237):c.*1382C>T rs187040024 0.00138
NM_001044385.3(TMEM237):c.*3728A>G rs555315551 0.00137
NM_001044385.3(TMEM237):c.97C>T (p.Arg33Cys) rs200714434 0.00136
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=) rs149240122 0.00111
NM_001044385.3(TMEM237):c.*258del rs558670305 0.00060
NM_001044385.3(TMEM237):c.871A>G (p.Ile291Val) rs202130417 0.00058
NM_001044385.3(TMEM237):c.*1655G>A rs1020619947 0.00048
NM_001044385.3(TMEM237):c.251A>G (p.Gln84Arg) rs373811074 0.00048
NM_001044385.3(TMEM237):c.*2960C>A rs188637429 0.00046
NM_001044385.3(TMEM237):c.*3517A>G rs563749617 0.00045
NM_001044385.3(TMEM237):c.*2141C>T rs147652455 0.00041
NM_001044385.3(TMEM237):c.475A>G (p.Thr159Ala) rs199500256 0.00033
NM_001044385.3(TMEM237):c.*1008A>G rs777244164 0.00032
NM_001044385.3(TMEM237):c.176G>A (p.Arg59Gln) rs199624987 0.00029
NM_001044385.3(TMEM237):c.*987C>T rs568084746 0.00027
NM_001044385.3(TMEM237):c.439G>A (p.Val147Ile) rs200531617 0.00026
NM_001044385.3(TMEM237):c.*1561G>A rs563393191 0.00025
NM_001044385.3(TMEM237):c.287C>T (p.Ser96Phe) rs376578633 0.00020
NM_001044385.3(TMEM237):c.634T>C (p.Trp212Arg) rs200467447 0.00020
NM_001044385.3(TMEM237):c.*714_*715del rs373844800 0.00019
NM_001044385.3(TMEM237):c.183C>T (p.Pro61=) rs372100073 0.00017
NM_001044385.3(TMEM237):c.869+10A>G rs376868416 0.00017
NM_001044385.3(TMEM237):c.*3123T>A rs866645983 0.00016
NM_001044385.3(TMEM237):c.*1151C>T rs188943302 0.00012
NM_001044385.3(TMEM237):c.396-13G>A rs570600190 0.00011
NM_001044385.3(TMEM237):c.989G>A (p.Ser330Asn) rs143081480 0.00011
NM_001044385.3(TMEM237):c.*1148A>G rs558665286 0.00010
NM_001044385.3(TMEM237):c.*1762G>A rs886055441 0.00010
NM_001044385.3(TMEM237):c.1031G>C (p.Ser344Thr) rs576982977 0.00010
NM_001044385.3(TMEM237):c.499A>G (p.Thr167Ala) rs781571059 0.00010
NM_001044385.3(TMEM237):c.*2465A>G rs527921749 0.00009
NM_001044385.3(TMEM237):c.*492T>C rs530304720 0.00009
NM_001044385.3(TMEM237):c.*1560C>T rs983166297 0.00008
NM_001044385.3(TMEM237):c.*3992A>G rs768173661 0.00006
NM_001044385.3(TMEM237):c.1160-1G>A rs747465681 0.00006
NM_001044385.3(TMEM237):c.*3385C>T rs374762322 0.00005
NM_001044385.3(TMEM237):c.*74T>C rs190276722 0.00005
NM_001044385.3(TMEM237):c.44G>A (p.Arg15His) rs560695891 0.00005
NM_001044385.3(TMEM237):c.*1108A>G rs758086204 0.00004
NM_001044385.3(TMEM237):c.*2964T>A rs955949981 0.00004
NM_001044385.3(TMEM237):c.1024A>G (p.Asn342Asp) rs372686071 0.00004
NM_001044385.3(TMEM237):c.297A>G (p.Gln99=) rs767711440 0.00004
NM_001044385.3(TMEM237):c.382C>T (p.Arg128Trp) rs370790275 0.00004
NM_001044385.3(TMEM237):c.42+1G>A rs1378726802 0.00004
NM_001044385.3(TMEM237):c.588A>G (p.Ile196Met) rs374042611 0.00004
NM_001044385.3(TMEM237):c.656T>C (p.Leu219Pro) rs200892635 0.00004
NM_001044385.3(TMEM237):c.686G>T (p.Gly229Val) rs374399278 0.00004
NM_001044385.3(TMEM237):c.*3697G>A rs761856568 0.00003
NM_001044385.3(TMEM237):c.104A>C (p.Lys35Thr) rs776825848 0.00003
NM_001044385.3(TMEM237):c.1141G>A (p.Gly381Ser) rs200863054 0.00003
NM_001044385.3(TMEM237):c.326G>A (p.Arg109Gln) rs777709042 0.00003
NM_001044385.3(TMEM237):c.505C>A (p.Pro169Thr) rs772074875 0.00003
NM_001044385.3(TMEM237):c.806C>T (p.Ala269Val) rs768672107 0.00003
NM_001044385.3(TMEM237):c.869+4A>G rs771107990 0.00003
NM_001044385.3(TMEM237):c.869+5T>C rs530769303 0.00003
NM_001044385.3(TMEM237):c.137-3T>C rs540193518 0.00002
NM_001044385.3(TMEM237):c.149T>C (p.Leu50Ser) rs1269827788 0.00002
NM_001044385.3(TMEM237):c.165G>T (p.Gln55His) rs768568104 0.00002
NM_001044385.3(TMEM237):c.206C>G (p.Thr69Ser) rs372581479 0.00002
NM_001044385.3(TMEM237):c.353C>T (p.Pro118Leu) rs17856844 0.00002
NM_001044385.3(TMEM237):c.553C>T (p.Arg185Trp) rs754056989 0.00002
NM_001044385.3(TMEM237):c.59T>C (p.Leu20Pro) rs373956551 0.00002
NM_001044385.3(TMEM237):c.*1330C>T rs1016616892 0.00001
NM_001044385.3(TMEM237):c.*1378A>G rs886055443 0.00001
NM_001044385.3(TMEM237):c.*1603T>G rs886055442 0.00001
NM_001044385.3(TMEM237):c.*1835C>T rs1414626161 0.00001
NM_001044385.3(TMEM237):c.*1879G>A rs1301264448 0.00001
NM_001044385.3(TMEM237):c.*1890G>A rs191383267 0.00001
NM_001044385.3(TMEM237):c.*1965G>A rs947203821 0.00001
NM_001044385.3(TMEM237):c.*2044T>C rs886055440 0.00001
NM_001044385.3(TMEM237):c.*2495C>G rs1459433205 0.00001
NM_001044385.3(TMEM237):c.*283A>C rs886055446 0.00001
NM_001044385.3(TMEM237):c.*3997A>G rs1387630894 0.00001
NM_001044385.3(TMEM237):c.*3C>A rs749132259 0.00001
NM_001044385.3(TMEM237):c.101C>T (p.Pro34Leu) rs1559590115 0.00001
NM_001044385.3(TMEM237):c.1038-6T>G rs758523904 0.00001
NM_001044385.3(TMEM237):c.1051G>A (p.Glu351Lys) rs752545565 0.00001
NM_001044385.3(TMEM237):c.1114T>C (p.Ser372Pro) rs370795793 0.00001
NM_001044385.3(TMEM237):c.1135A>T (p.Arg379Trp) rs747158935 0.00001
NM_001044385.3(TMEM237):c.1144A>G (p.Met382Val) rs1437714395 0.00001
NM_001044385.3(TMEM237):c.1183G>A (p.Glu395Lys) rs373445814 0.00001
NM_001044385.3(TMEM237):c.231G>T (p.Glu77Asp) rs779250127 0.00001
NM_001044385.3(TMEM237):c.284C>A (p.Thr95Asn) rs780447853 0.00001
NM_001044385.3(TMEM237):c.300G>T (p.Lys100Asn) rs757355382 0.00001
NM_001044385.3(TMEM237):c.310A>G (p.Ser104Gly) rs1400252092 0.00001
NM_001044385.3(TMEM237):c.317C>G (p.Ser106Cys) rs1186656902 0.00001
NM_001044385.3(TMEM237):c.319T>G (p.Leu107Val) rs764450175 0.00001
NM_001044385.3(TMEM237):c.347C>T (p.Ala116Val) rs759392151 0.00001
NM_001044385.3(TMEM237):c.365C>T (p.Ala122Val) rs772680401 0.00001
NM_001044385.3(TMEM237):c.437G>C (p.Gly146Ala) rs184256195 0.00001
NM_001044385.3(TMEM237):c.43C>T (p.Arg15Cys) rs879773501 0.00001
NM_001044385.3(TMEM237):c.454A>C (p.Ile152Leu) rs771052304 0.00001
NM_001044385.3(TMEM237):c.469C>A (p.Gln157Lys) rs762678333 0.00001
NM_001044385.3(TMEM237):c.482A>G (p.Glu161Gly) rs771350638 0.00001
NM_001044385.3(TMEM237):c.541G>A (p.Val181Met) rs755252433 0.00001
NM_001044385.3(TMEM237):c.553C>A (p.Arg185=) rs754056989 0.00001
NM_001044385.3(TMEM237):c.575G>A (p.Arg192His) rs186216206 0.00001
NM_001044385.3(TMEM237):c.617T>C (p.Met206Thr) rs773685442 0.00001
NM_001044385.3(TMEM237):c.665A>G (p.His222Arg) rs749330370 0.00001
NM_001044385.3(TMEM237):c.668G>A (p.Arg223Gln) rs770053080 0.00001
NM_001044385.3(TMEM237):c.676A>G (p.Arg226Gly) rs2105899169 0.00001
NM_001044385.3(TMEM237):c.683T>C (p.Ile228Thr) rs752096103 0.00001
NM_001044385.3(TMEM237):c.716G>C (p.Cys239Ser) rs769694232 0.00001
NM_001044385.3(TMEM237):c.721G>A (p.Val241Met) rs759814109 0.00001
NM_001044385.3(TMEM237):c.736G>A (p.Val246Met) rs886055448 0.00001
NM_001044385.3(TMEM237):c.74+12_74+14del rs753129043 0.00001
NM_001044385.3(TMEM237):c.79+5G>C rs1687387467 0.00001
NM_001044385.3(TMEM237):c.807G>A (p.Ala269=) rs763452347 0.00001
NM_001044385.3(TMEM237):c.875A>T (p.Asp292Val) rs773512396 0.00001
NM_001044385.3(TMEM237):c.878T>G (p.Phe293Cys) rs1209527419 0.00001
NM_001044385.3(TMEM237):c.889T>C (p.Ser297Pro) rs761660963 0.00001
NM_001044385.3(TMEM237):c.902G>A (p.Arg301Gln) rs745540263 0.00001
NM_001044385.3(TMEM237):c.91C>T (p.Leu31Phe) rs1458601695 0.00001
NM_001044385.3(TMEM237):c.920A>G (p.Asp307Gly) rs2105898418 0.00001
NM_001044385.3(TMEM237):c.943+5G>A rs779322966 0.00001
NM_001044385.3(TMEM237):c.98G>A (p.Arg33His) rs576586379 0.00001
NC_000002.11:g.(?_202488978)_(202508123_?)dup
NC_000002.11:g.(?_202496774)_(202498154_?)del
NM_001044385.3(TMEM237):c.*1303G>A rs886055444
NM_001044385.3(TMEM237):c.*1436G>T rs528180812
NM_001044385.3(TMEM237):c.*1606T>C rs1000633418
NM_001044385.3(TMEM237):c.*2307A>G rs1957712077
NM_001044385.3(TMEM237):c.*2448C>A rs1234909902
NM_001044385.3(TMEM237):c.*2582G>T rs886055439
NM_001044385.3(TMEM237):c.*2626T>C rs1957709069
NM_001044385.3(TMEM237):c.*2652A>G rs1957708713
NM_001044385.3(TMEM237):c.*2670C>T rs1559581980
NM_001044385.3(TMEM237):c.*2682G>C rs886055438
NM_001044385.3(TMEM237):c.*3013A>G rs886055437
NM_001044385.3(TMEM237):c.*303C>T rs1957734276
NM_001044385.3(TMEM237):c.*3350A>T rs561312621
NM_001044385.3(TMEM237):c.*3513del rs143218667
NM_001044385.3(TMEM237):c.*4020T>A rs886055435
NM_001044385.3(TMEM237):c.*470_*473del rs886055445
NM_001044385.3(TMEM237):c.*62A>G rs1957736360
NM_001044385.3(TMEM237):c.*663G>C rs940503609
NM_001044385.3(TMEM237):c.*781G>A rs1957729006
NM_001044385.3(TMEM237):c.*895C>G rs1957727656
NM_001044385.3(TMEM237):c.*940A>C rs1957727275
NM_001044385.3(TMEM237):c.1003C>G (p.Leu335Val)
NM_001044385.3(TMEM237):c.1015TCT[1] (p.Ser340del) rs1253829624
NM_001044385.3(TMEM237):c.1027G>A (p.Gly343Ser) rs2469489169
NM_001044385.3(TMEM237):c.1039G>C (p.Glu347Gln)
NM_001044385.3(TMEM237):c.1066dup (p.Gln356fs) rs751952525
NM_001044385.3(TMEM237):c.1078G>A (p.Val360Met) rs1957756642
NM_001044385.3(TMEM237):c.1078G>C (p.Val360Leu) rs1957756642
NM_001044385.3(TMEM237):c.1081G>A (p.Val361Met)
NM_001044385.3(TMEM237):c.1090G>C (p.Val364Leu)
NM_001044385.3(TMEM237):c.1090G>T (p.Val364Leu) rs138509553
NM_001044385.3(TMEM237):c.1091T>C (p.Val364Ala) rs1957756375
NM_001044385.3(TMEM237):c.1115C>G (p.Ser372Cys) rs886055447
NM_001044385.3(TMEM237):c.1138C>A (p.Pro380Thr)
NM_001044385.3(TMEM237):c.113A>C (p.Lys38Thr) rs2469508938
NM_001044385.3(TMEM237):c.1154G>A (p.Ser385Asn) rs1362249907
NM_001044385.3(TMEM237):c.1159+3A>G rs754717992
NM_001044385.3(TMEM237):c.1169T>C (p.Phe390Ser)
NM_001044385.3(TMEM237):c.1173del (p.Ser392fs) rs763176756
NM_001044385.3(TMEM237):c.1182G>A (p.Val394=)
NM_001044385.3(TMEM237):c.1192C>T (p.Pro398Ser) rs1957737864
NM_001044385.3(TMEM237):c.1197T>G (p.Asp399Glu)
NM_001044385.3(TMEM237):c.1203_1208del (p.400KE[1]) rs765428296
NM_001044385.3(TMEM237):c.1211T>C (p.Ile404Thr)
NM_001044385.3(TMEM237):c.1215del (p.Ala406fs) rs761770686
NM_001044385.3(TMEM237):c.1217C>A (p.Ala406Asp) rs2469484835
NM_001044385.3(TMEM237):c.1220C>T (p.Ser407Phe) rs2469484829
NM_001044385.3(TMEM237):c.128A>G (p.Asn43Ser)
NM_001044385.3(TMEM237):c.131C>T (p.Thr44Ile) rs1297284388
NM_001044385.3(TMEM237):c.132A>C (p.Thr44=) rs747915597
NM_001044385.3(TMEM237):c.133C>T (p.Pro45Ser) rs1376540567
NM_001044385.3(TMEM237):c.139A>G (p.Ser47Gly)
NM_001044385.3(TMEM237):c.155G>T (p.Gly52Val) rs1488249909
NM_001044385.3(TMEM237):c.157C>T (p.Leu53Phe) rs1687306098
NM_001044385.3(TMEM237):c.169G>A (p.Ala57Thr) rs999613520
NM_001044385.3(TMEM237):c.205A>G (p.Thr69Ala) rs376226585
NM_001044385.3(TMEM237):c.205A>T (p.Thr69Ser) rs376226585
NM_001044385.3(TMEM237):c.214C>G (p.Leu72Val) rs1369476710
NM_001044385.3(TMEM237):c.226C>A (p.Pro76Thr) rs367728637
NM_001044385.3(TMEM237):c.226C>T (p.Pro76Ser)
NM_001044385.3(TMEM237):c.244AGA[1] (p.Arg83del)
NM_001044385.3(TMEM237):c.275-13_275-9del
NM_001044385.3(TMEM237):c.276A>T (p.Glu92Asp)
NM_001044385.3(TMEM237):c.292A>G (p.Thr98Ala) rs750961270
NM_001044385.3(TMEM237):c.293C>T (p.Thr98Ile) rs1324625933
NM_001044385.3(TMEM237):c.301A>G (p.Lys101Glu) rs1430527300
NM_001044385.3(TMEM237):c.311G>A (p.Ser104Asn) rs1687222402
NM_001044385.3(TMEM237):c.330T>G (p.Asn110Lys) rs1553660992
NM_001044385.3(TMEM237):c.346G>A (p.Ala116Thr) rs1339325702
NM_001044385.3(TMEM237):c.355G>A (p.Ala119Thr) rs2105900828
NM_001044385.3(TMEM237):c.42+6C>T rs1687472990
NM_001044385.3(TMEM237):c.424G>A (p.Ala142Thr) rs2105900282
NM_001044385.3(TMEM237):c.428A>G (p.Asn143Ser) rs750312169
NM_001044385.3(TMEM237):c.478G>A (p.Val160Met) rs2105900253
NM_001044385.3(TMEM237):c.505C>T (p.Pro169Ser) rs772074875
NM_001044385.3(TMEM237):c.532A>G (p.Lys178Glu)
NM_001044385.3(TMEM237):c.546A>G (p.Glu182=) rs1957812548
NM_001044385.3(TMEM237):c.553+2dup rs1957812399
NM_001044385.3(TMEM237):c.553+3dup rs1957812369
NM_001044385.3(TMEM237):c.554-2_554-1insT rs1085307098
NM_001044385.3(TMEM237):c.557G>T (p.Arg186Ile) rs1427517308
NM_001044385.3(TMEM237):c.56C>G (p.Ala19Gly)
NM_001044385.3(TMEM237):c.586A>T (p.Ile196Leu) rs1202199961
NM_001044385.3(TMEM237):c.598G>C (p.Glu200Gln)
NM_001044385.3(TMEM237):c.59T>G (p.Leu20Arg) rs373956551
NM_001044385.3(TMEM237):c.618G>A (p.Met206Ile) rs767769973
NM_001044385.3(TMEM237):c.622G>A (p.Val208Met)
NM_001044385.3(TMEM237):c.655C>T (p.Leu219Phe) rs2105899190
NM_001044385.3(TMEM237):c.65C>T (p.Pro22Leu) rs769861092
NM_001044385.3(TMEM237):c.662T>C (p.Val221Ala)
NM_001044385.3(TMEM237):c.670G>T (p.Ala224Ser)
NM_001044385.3(TMEM237):c.671C>T (p.Ala224Val)
NM_001044385.3(TMEM237):c.677+3G>T
NM_001044385.3(TMEM237):c.685G>C (p.Gly229Arg) rs1163877651
NM_001044385.3(TMEM237):c.709G>T (p.Ala237Ser) rs763431945
NM_001044385.3(TMEM237):c.745G>A (p.Val249Ile)
NM_001044385.3(TMEM237):c.767C>G (p.Ser256Cys) rs2105898977
NM_001044385.3(TMEM237):c.775T>C (p.Ser259Pro) rs992818026
NM_001044385.3(TMEM237):c.789A>T (p.Gln263His)
NM_001044385.3(TMEM237):c.850A>G (p.Thr284Ala) rs759490227
NM_001044385.3(TMEM237):c.851C>T (p.Thr284Ile) rs1015591586
NM_001044385.3(TMEM237):c.854T>C (p.Ile285Thr) rs1343901400
NM_001044385.3(TMEM237):c.860C>A (p.Ala287Asp) rs1282683026
NM_001044385.3(TMEM237):c.870-8T>G rs2105898458
NM_001044385.3(TMEM237):c.890C>T (p.Ser297Leu)
NM_001044385.3(TMEM237):c.926C>G (p.Thr309Arg) rs1380123430
NM_001044385.3(TMEM237):c.934G>C (p.Ala312Pro) rs2105898403
NM_001044385.3(TMEM237):c.935C>T (p.Ala312Val)
NM_001044385.3(TMEM237):c.943+6T>C
NM_001044385.3(TMEM237):c.944T>G (p.Leu315Trp) rs1043186259
NM_001044385.3(TMEM237):c.964C>G (p.Leu322Val) rs2105898068
NM_001044385.3(TMEM237):c.965T>G (p.Leu322Arg) rs1957768968
NM_001044385.3(TMEM237):c.970C>G (p.Leu324Val) rs2469489253
NM_001044385.3(TMEM237):c.986C>G (p.Thr329Arg) rs1057148787

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