ClinVar Miner

List of variants in gene TMEM237 studied for Joubert syndrome with ocular defect

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 203
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HGVS dbSNP
NC_000002.11:g.(?_202496774)_(202498154_?)del
NM_001044385.3(TMEM237):c.*1008A>G
NM_001044385.3(TMEM237):c.*1107C>T rs143516209
NM_001044385.3(TMEM237):c.*1108A>G rs758086204
NM_001044385.3(TMEM237):c.*1148A>G
NM_001044385.3(TMEM237):c.*1151C>T rs188943302
NM_001044385.3(TMEM237):c.*1303G>A rs886055444
NM_001044385.3(TMEM237):c.*1330C>T
NM_001044385.3(TMEM237):c.*1378A>G rs886055443
NM_001044385.3(TMEM237):c.*1382C>T
NM_001044385.3(TMEM237):c.*1436G>T
NM_001044385.3(TMEM237):c.*1489G>C
NM_001044385.3(TMEM237):c.*1560C>T
NM_001044385.3(TMEM237):c.*1561G>A
NM_001044385.3(TMEM237):c.*1588G>A
NM_001044385.3(TMEM237):c.*1603T>G rs886055442
NM_001044385.3(TMEM237):c.*1606T>C
NM_001044385.3(TMEM237):c.*1655G>A
NM_001044385.3(TMEM237):c.*1762G>A rs886055441
NM_001044385.3(TMEM237):c.*1835C>T
NM_001044385.3(TMEM237):c.*1879G>A
NM_001044385.3(TMEM237):c.*1890G>A
NM_001044385.3(TMEM237):c.*1965G>A
NM_001044385.3(TMEM237):c.*1975C>G
NM_001044385.3(TMEM237):c.*2044T>C rs886055440
NM_001044385.3(TMEM237):c.*2137A>G
NM_001044385.3(TMEM237):c.*2141C>T rs147652455
NM_001044385.3(TMEM237):c.*2142G>C rs76042698
NM_001044385.3(TMEM237):c.*2180G>A
NM_001044385.3(TMEM237):c.*2307A>G
NM_001044385.3(TMEM237):c.*2349C>T
NM_001044385.3(TMEM237):c.*2431T>G rs142355657
NM_001044385.3(TMEM237):c.*2448C>A
NM_001044385.3(TMEM237):c.*2465A>G rs527921749
NM_001044385.3(TMEM237):c.*2480T>G rs75655554
NM_001044385.3(TMEM237):c.*2495C>G
NM_001044385.3(TMEM237):c.*2582G>T rs886055439
NM_001044385.3(TMEM237):c.*2626T>C
NM_001044385.3(TMEM237):c.*2652A>G
NM_001044385.3(TMEM237):c.*2670C>T
NM_001044385.3(TMEM237):c.*2682G>C rs886055438
NM_001044385.3(TMEM237):c.*2719G>A rs142852956
NM_001044385.3(TMEM237):c.*283A>C rs886055446
NM_001044385.3(TMEM237):c.*2960C>A rs188637429
NM_001044385.3(TMEM237):c.*2964T>A
NM_001044385.3(TMEM237):c.*3013A>G rs886055437
NM_001044385.3(TMEM237):c.*303C>T
NM_001044385.3(TMEM237):c.*308T>G rs185380807
NM_001044385.3(TMEM237):c.*3123T>A
NM_001044385.3(TMEM237):c.*3124A>T
NM_001044385.3(TMEM237):c.*3350A>T
NM_001044385.3(TMEM237):c.*3372C>T rs192214909
NM_001044385.3(TMEM237):c.*3385C>T rs374762322
NM_001044385.3(TMEM237):c.*3453T>G rs77771615
NM_001044385.3(TMEM237):c.*3517A>G
NM_001044385.3(TMEM237):c.*3697G>A rs761856568
NM_001044385.3(TMEM237):c.*3728A>G rs555315551
NM_001044385.3(TMEM237):c.*3855A>G rs187328136
NM_001044385.3(TMEM237):c.*3992A>G
NM_001044385.3(TMEM237):c.*3997A>G
NM_001044385.3(TMEM237):c.*3C>A
NM_001044385.3(TMEM237):c.*4020T>A rs886055435
NM_001044385.3(TMEM237):c.*439G>A
NM_001044385.3(TMEM237):c.*492T>C rs530304720
NM_001044385.3(TMEM237):c.*564T>C
NM_001044385.3(TMEM237):c.*62A>G
NM_001044385.3(TMEM237):c.*634C>T
NM_001044385.3(TMEM237):c.*663G>C
NM_001044385.3(TMEM237):c.*74T>C
NM_001044385.3(TMEM237):c.*781G>A
NM_001044385.3(TMEM237):c.*895C>G
NM_001044385.3(TMEM237):c.*940A>C
NM_001044385.3(TMEM237):c.*962A>C
NM_001044385.3(TMEM237):c.*969A>G
NM_001044385.3(TMEM237):c.*987C>T rs568084746
NM_001044385.3(TMEM237):c.-12G>A rs113186360
NM_001044385.3(TMEM237):c.-25G>A rs568671275
NM_001044385.3(TMEM237):c.-59G>A rs886055449
NM_001044385.3(TMEM237):c.-61G>A rs571550977
NM_001044385.3(TMEM237):c.-67T>G rs886055450
NM_001044385.3(TMEM237):c.101C>T (p.Pro34Leu)
NM_001044385.3(TMEM237):c.1024A>G (p.Asn342Asp) rs372686071
NM_001044385.3(TMEM237):c.1031G>C (p.Ser344Thr)
NM_001044385.3(TMEM237):c.1038-18G>C
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=) rs149240122
NM_001044385.3(TMEM237):c.1066dup (p.Gln356fs) rs751952525
NM_001044385.3(TMEM237):c.1090G>A (p.Val364Met) rs138509553
NM_001044385.3(TMEM237):c.1090G>T (p.Val364Leu)
NM_001044385.3(TMEM237):c.1091T>C (p.Val364Ala)
NM_001044385.3(TMEM237):c.1096G>T (p.Ala366Ser) rs73989521
NM_001044385.3(TMEM237):c.1115C>G (p.Ser372Cys) rs886055447
NM_001044385.3(TMEM237):c.1134T>C (p.Tyr378=) rs77570029
NM_001044385.3(TMEM237):c.114G>A (p.Lys38=) rs770907860
NM_001044385.3(TMEM237):c.1173del (p.Ser392fs) rs763176756
NM_001044385.3(TMEM237):c.1176A>G (p.Ser392=) rs773344011
NM_001044385.3(TMEM237):c.1183G>A (p.Glu395Lys)
NM_001044385.3(TMEM237):c.1192C>T (p.Pro398Ser)
NM_001044385.3(TMEM237):c.1212C>T (p.Ile404=) rs1317494328
NM_001044385.3(TMEM237):c.1215del (p.Ala406fs)
NM_001044385.3(TMEM237):c.132A>C (p.Thr44=)
NM_001044385.3(TMEM237):c.136+1G>T
NM_001044385.3(TMEM237):c.136+7C>T
NM_001044385.3(TMEM237):c.136+8G>A rs200618675
NM_001044385.3(TMEM237):c.137-3T>C
NM_001044385.3(TMEM237):c.149T>C (p.Leu50Ser)
NM_001044385.3(TMEM237):c.14C>T (p.Ser5Leu)
NM_001044385.3(TMEM237):c.157C>T (p.Leu53Phe)
NM_001044385.3(TMEM237):c.15G>C (p.Ser5=)
NM_001044385.3(TMEM237):c.169G>A (p.Ala57Thr) rs999613520
NM_001044385.3(TMEM237):c.176G>A (p.Arg59Gln) rs199624987
NM_001044385.3(TMEM237):c.183C>T (p.Pro61=) rs372100073
NM_001044385.3(TMEM237):c.194A>G (p.Asn65Ser) rs141817764
NM_001044385.3(TMEM237):c.1A>G (p.Met1Val)
NM_001044385.3(TMEM237):c.226C>A (p.Pro76Thr)
NM_001044385.3(TMEM237):c.22C>T (p.Arg8Trp)
NM_001044385.3(TMEM237):c.24G>A (p.Arg8=) rs377090903
NM_001044385.3(TMEM237):c.251A>G (p.Gln84Arg)
NM_001044385.3(TMEM237):c.275-2A>G rs1574582671
NM_001044385.3(TMEM237):c.275-9T>C
NM_001044385.3(TMEM237):c.287C>T (p.Ser96Phe)
NM_001044385.3(TMEM237):c.293C>T (p.Thr98Ile)
NM_001044385.3(TMEM237):c.297A>G (p.Gln99=) rs767711440
NM_001044385.3(TMEM237):c.311G>A (p.Ser104Asn)
NM_001044385.3(TMEM237):c.317C>G (p.Ser106Cys)
NM_001044385.3(TMEM237):c.31G>A (p.Glu11Lys)
NM_001044385.3(TMEM237):c.330T>G (p.Asn110Lys) rs1553660992
NM_001044385.3(TMEM237):c.33G>A (p.Glu11=)
NM_001044385.3(TMEM237):c.347C>T (p.Ala116Val)
NM_001044385.3(TMEM237):c.348G>A (p.Ala116=) rs191125006
NM_001044385.3(TMEM237):c.365C>T (p.Ala122Val)
NM_001044385.3(TMEM237):c.382C>T (p.Arg128Trp)
NM_001044385.3(TMEM237):c.395+7A>G rs78297522
NM_001044385.3(TMEM237):c.396-13G>A
NM_001044385.3(TMEM237):c.396-14C>T rs74411816
NM_001044385.3(TMEM237):c.405G>A (p.Gln135=) rs370418884
NM_001044385.3(TMEM237):c.418C>T (p.Gln140Ter) rs972221242
NM_001044385.3(TMEM237):c.42+15G>A
NM_001044385.3(TMEM237):c.42+1G>A
NM_001044385.3(TMEM237):c.437G>C (p.Gly146Ala)
NM_001044385.3(TMEM237):c.439G>A (p.Val147Ile) rs200531617
NM_001044385.3(TMEM237):c.454A>C (p.Ile152Leu)
NM_001044385.3(TMEM237):c.471A>G (p.Gln157=)
NM_001044385.3(TMEM237):c.475A>G (p.Thr159Ala) rs199500256
NM_001044385.3(TMEM237):c.482A>G (p.Glu161Gly)
NM_001044385.3(TMEM237):c.499A>G (p.Thr167Ala)
NM_001044385.3(TMEM237):c.505C>A (p.Pro169Thr)
NM_001044385.3(TMEM237):c.51A>G (p.Pro17=)
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter) rs199469707
NM_001044385.3(TMEM237):c.546A>G (p.Glu182=)
NM_001044385.3(TMEM237):c.553+1G>A
NM_001044385.3(TMEM237):c.553+2dup
NM_001044385.3(TMEM237):c.553+3dup
NM_001044385.3(TMEM237):c.553+9A>T
NM_001044385.3(TMEM237):c.553C>T (p.Arg185Trp)
NM_001044385.3(TMEM237):c.554-10G>A
NM_001044385.3(TMEM237):c.554-15G>A rs144051344
NM_001044385.3(TMEM237):c.554-2_554-1insT rs1085307098
NM_001044385.3(TMEM237):c.588A>G (p.Ile196Met)
NM_001044385.3(TMEM237):c.605_606del (p.Ile202fs)
NM_001044385.3(TMEM237):c.617T>C (p.Met206Thr)
NM_001044385.3(TMEM237):c.618G>A (p.Met206Ile)
NM_001044385.3(TMEM237):c.634T>C (p.Trp212Arg) rs200467447
NM_001044385.3(TMEM237):c.656T>C (p.Leu219Pro)
NM_001044385.3(TMEM237):c.668G>A (p.Arg223Gln) rs770053080
NM_001044385.3(TMEM237):c.66T>A (p.Pro22=) rs370010097
NM_001044385.3(TMEM237):c.672T>G (p.Ala224=)
NM_001044385.3(TMEM237):c.677+1G>A rs793888505
NM_001044385.3(TMEM237):c.677+1G>T rs793888505
NM_001044385.3(TMEM237):c.678-13C>T
NM_001044385.3(TMEM237):c.721G>A (p.Val241Met)
NM_001044385.3(TMEM237):c.736G>A (p.Val246Met) rs886055448
NM_001044385.3(TMEM237):c.738G>A (p.Val246=) rs199947989
NM_001044385.3(TMEM237):c.74+15C>T rs375401635
NM_001044385.3(TMEM237):c.747T>A (p.Val249=)
NM_001044385.3(TMEM237):c.75-13T>C rs116829037
NM_001044385.3(TMEM237):c.75-8C>T rs1274569461
NM_001044385.3(TMEM237):c.76C>T (p.Gln26Ter) rs387907131
NM_001044385.3(TMEM237):c.778A>G (p.Asn260Asp) rs151163650
NM_001044385.3(TMEM237):c.79+8del
NM_001044385.3(TMEM237):c.80-11T>C rs76296365
NM_001044385.3(TMEM237):c.80-18dup
NM_001044385.3(TMEM237):c.80-2A>G rs1445957469
NM_001044385.3(TMEM237):c.806C>T (p.Ala269Val)
NM_001044385.3(TMEM237):c.807G>A (p.Ala269=) rs763452347
NM_001044385.3(TMEM237):c.858A>G (p.Ser286=)
NM_001044385.3(TMEM237):c.869+10A>G rs376868416
NM_001044385.3(TMEM237):c.869+1G>A rs730882231
NM_001044385.3(TMEM237):c.869+1del
NM_001044385.3(TMEM237):c.869+4A>G
NM_001044385.3(TMEM237):c.869+5T>C
NM_001044385.3(TMEM237):c.870-13_870-12del rs555284377
NM_001044385.3(TMEM237):c.871A>G (p.Ile291Val) rs202130417
NM_001044385.3(TMEM237):c.875A>T (p.Asp292Val)
NM_001044385.3(TMEM237):c.878T>G (p.Phe293Cys)
NM_001044385.3(TMEM237):c.890C>G (p.Ser297Ter)
NM_001044385.3(TMEM237):c.901C>T (p.Arg301Ter) rs775449384
NM_001044385.3(TMEM237):c.902G>A (p.Arg301Gln)
NM_001044385.3(TMEM237):c.936A>G (p.Ala312=)
NM_001044385.3(TMEM237):c.943+1G>T rs748510210
NM_001044385.3(TMEM237):c.965T>G (p.Leu322Arg)
NM_001044385.3(TMEM237):c.97C>T (p.Arg33Cys) rs200714434
NM_001044385.3(TMEM237):c.98G>A (p.Arg33His)
NM_001044385.3(TMEM237):c.9T>G (p.Thr3=) rs6736435

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