ClinVar Miner

List of variants in gene TMEM237 reported as likely benign for Joubert syndrome

Included ClinVar conditions (97):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 128
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HGVS dbSNP gnomAD frequency
NM_001044385.3(TMEM237):c.*3124A>T rs79378497 0.01390
NM_001044385.3(TMEM237):c.80-11T>C rs76296365 0.00503
NM_001044385.3(TMEM237):c.*1588G>A rs150141936 0.00435
NM_001044385.3(TMEM237):c.*3453T>G rs77771615 0.00420
NM_001044385.3(TMEM237):c.*2137A>G rs115353606 0.00418
NM_001044385.3(TMEM237):c.*2349C>T rs74884418 0.00418
NM_001044385.3(TMEM237):c.*3372C>T rs192214909 0.00418
NM_001044385.3(TMEM237):c.*1975C>G rs142233268 0.00417
NM_001044385.3(TMEM237):c.*2719G>A rs142852956 0.00417
NM_001044385.3(TMEM237):c.*2180G>A rs77649251 0.00416
NM_001044385.3(TMEM237):c.*1107C>T rs143516209 0.00399
NM_001044385.3(TMEM237):c.*2431T>G rs142355657 0.00379
NM_001044385.3(TMEM237):c.*2480T>G rs75655554 0.00337
NM_001044385.3(TMEM237):c.136+8G>A rs200618675 0.00220
NM_001044385.3(TMEM237):c.194A>G (p.Asn65Ser) rs141817764 0.00211
NM_001044385.3(TMEM237):c.*634C>T rs139016907 0.00207
NM_001044385.3(TMEM237):c.*439G>A rs139374574 0.00205
NM_001044385.3(TMEM237):c.1090G>A (p.Val364Met) rs138509553 0.00184
NM_001044385.3(TMEM237):c.348G>A (p.Ala116=) rs191125006 0.00163
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.778A>G (p.Asn260Asp) rs151163650 0.00076
NM_001044385.3(TMEM237):c.66T>A (p.Pro22=) rs370010097 0.00038
NM_001044385.3(TMEM237):c.405G>A (p.Gln135=) rs370418884 0.00030
NM_001044385.3(TMEM237):c.554-10G>A rs371503069 0.00030
NM_001044385.3(TMEM237):c.176G>A (p.Arg59Gln) rs199624987 0.00029
NM_001044385.3(TMEM237):c.944-16T>C rs369720243 0.00026
NM_001044385.3(TMEM237):c.183C>T (p.Pro61=) rs372100073 0.00017
NM_001044385.3(TMEM237):c.79+8del rs759786234 0.00016
NM_001044385.3(TMEM237):c.74+15C>T rs375401635 0.00007
NM_001044385.3(TMEM237):c.396-15A>G rs377483886 0.00006
NM_001044385.3(TMEM237):c.738G>A (p.Val246=) rs199947989 0.00006
NM_001044385.3(TMEM237):c.79+15T>C rs182250754 0.00006
NM_001044385.3(TMEM237):c.267A>G (p.Leu89=) rs766759082 0.00005
NM_001044385.3(TMEM237):c.1176A>G (p.Ser392=) rs773344011 0.00004
NM_001044385.3(TMEM237):c.137-14C>G rs760624801 0.00004
NM_001044385.3(TMEM237):c.297A>G (p.Gln99=) rs767711440 0.00004
NM_001044385.3(TMEM237):c.43-8C>T rs759325746 0.00004
NM_001044385.3(TMEM237):c.1110A>C (p.Gly370=) rs373965403 0.00003
NM_001044385.3(TMEM237):c.275-9T>C rs749658028 0.00003
NM_001044385.3(TMEM237):c.553+9A>T rs568158023 0.00003
NM_001044385.3(TMEM237):c.75-8C>T rs1274569461 0.00003
NM_001044385.3(TMEM237):c.966A>G (p.Leu322=) rs374543039 0.00003
NM_001044385.3(TMEM237):c.137-17A>G rs957766696 0.00002
NM_001044385.3(TMEM237):c.274+18G>A rs762194214 0.00002
NM_001044385.3(TMEM237):c.396-4A>G rs779155285 0.00002
NM_001044385.3(TMEM237):c.75-7G>A rs1443411958 0.00002
NM_001044385.3(TMEM237):c.936A>G (p.Ala312=) rs934193386 0.00002
NM_001044385.3(TMEM237):c.1038-13T>C rs1302601727 0.00001
NM_001044385.3(TMEM237):c.1089C>T (p.Leu363=) rs760192361 0.00001
NM_001044385.3(TMEM237):c.114G>A (p.Lys38=) rs770907860 0.00001
NM_001044385.3(TMEM237):c.1159+15A>C rs753804873 0.00001
NM_001044385.3(TMEM237):c.1212C>T (p.Ile404=) rs1317494328 0.00001
NM_001044385.3(TMEM237):c.136+17T>C rs1461794959 0.00001
NM_001044385.3(TMEM237):c.136+20T>C rs369460337 0.00001
NM_001044385.3(TMEM237):c.136+7C>T rs768764111 0.00001
NM_001044385.3(TMEM237):c.395+16T>C rs757805414 0.00001
NM_001044385.3(TMEM237):c.42+15G>A rs1461749315 0.00001
NM_001044385.3(TMEM237):c.42+18C>T rs1419832785 0.00001
NM_001044385.3(TMEM237):c.42+7G>T rs1289460476 0.00001
NM_001044385.3(TMEM237):c.43-6C>T rs886974025 0.00001
NM_001044385.3(TMEM237):c.435A>G (p.Leu145=) rs1957813495 0.00001
NM_001044385.3(TMEM237):c.471A>G (p.Gln157=) rs1466574515 0.00001
NM_001044385.3(TMEM237):c.554-5C>T rs1196375801 0.00001
NM_001044385.3(TMEM237):c.714C>G (p.Gly238=) rs370681829 0.00001
NM_001044385.3(TMEM237):c.804A>G (p.Leu268=) rs528219980 0.00001
NM_001044385.3(TMEM237):c.807G>A (p.Ala269=) rs763452347 0.00001
NM_001044385.3(TMEM237):c.832T>C (p.Leu278=) rs1483649010 0.00001
NM_001044385.3(TMEM237):c.*2142G>C rs76042698
NM_001044385.3(TMEM237):c.1002C>T (p.His334=) rs2469489207
NM_001044385.3(TMEM237):c.1037+14A>G
NM_001044385.3(TMEM237):c.1038-16G>A rs2105897395
NM_001044385.3(TMEM237):c.1038-18G>C rs1462537932
NM_001044385.3(TMEM237):c.1038-19A>T
NM_001044385.3(TMEM237):c.1068G>A (p.Gln356=)
NM_001044385.3(TMEM237):c.1159+16A>C
NM_001044385.3(TMEM237):c.1159+20G>A rs1162670210
NM_001044385.3(TMEM237):c.1160-23_1160-20dup rs2469485042
NM_001044385.3(TMEM237):c.1161G>A (p.Glu387=) rs1322889552
NM_001044385.3(TMEM237):c.136+19T>C rs2105903480
NM_001044385.3(TMEM237):c.137-14_137-13del rs2469505570
NM_001044385.3(TMEM237):c.137-19C>G rs369430368
NM_001044385.3(TMEM237):c.174T>G (p.Gly58=) rs2105902384
NM_001044385.3(TMEM237):c.192C>T (p.Gly64=) rs2105902371
NM_001044385.3(TMEM237):c.204A>G (p.Ser68=) rs2105902357
NM_001044385.3(TMEM237):c.274+14C>G rs1397298811
NM_001044385.3(TMEM237):c.274+18G>C rs762194214
NM_001044385.3(TMEM237):c.274+9A>G rs1687303431
NM_001044385.3(TMEM237):c.378A>G (p.Lys126=) rs767598535
NM_001044385.3(TMEM237):c.402C>T (p.Thr134=) rs1253365223
NM_001044385.3(TMEM237):c.417A>G (p.Leu139=) rs2105900286
NM_001044385.3(TMEM237):c.42+16C>G rs2105906044
NM_001044385.3(TMEM237):c.43-7G>A
NM_001044385.3(TMEM237):c.510T>G (p.Thr170=) rs2469498038
NM_001044385.3(TMEM237):c.513C>T (p.Gly171=) rs2105900225
NM_001044385.3(TMEM237):c.51A>G (p.Pro17=) rs1433478535
NM_001044385.3(TMEM237):c.554-14T>C
NM_001044385.3(TMEM237):c.554-3dup rs778807445
NM_001044385.3(TMEM237):c.672T>G (p.Ala224=) rs2105899171
NM_001044385.3(TMEM237):c.677+11T>C
NM_001044385.3(TMEM237):c.677+18A>G rs2469494512
NM_001044385.3(TMEM237):c.678-13C>A
NM_001044385.3(TMEM237):c.678-13C>T rs1957789089
NM_001044385.3(TMEM237):c.678-15C>A rs767937638
NM_001044385.3(TMEM237):c.678-6A>G rs1227815350
NM_001044385.3(TMEM237):c.69G>T (p.Val23=) rs2105904439
NM_001044385.3(TMEM237):c.747T>A (p.Val249=) rs1957787811
NM_001044385.3(TMEM237):c.75-19G>A rs2469511481
NM_001044385.3(TMEM237):c.75-5G>A rs1352518639
NM_001044385.3(TMEM237):c.79+20A>T rs745908076
NM_001044385.3(TMEM237):c.795C>T (p.Tyr265=) rs369062566
NM_001044385.3(TMEM237):c.80-18dup rs747217784
NM_001044385.3(TMEM237):c.80-19G>A
NM_001044385.3(TMEM237):c.80-20C>T rs753443048
NM_001044385.3(TMEM237):c.80-7T>C
NM_001044385.3(TMEM237):c.813A>G (p.Pro271=) rs2105898943
NM_001044385.3(TMEM237):c.858A>G (p.Ser286=) rs2105898925
NM_001044385.3(TMEM237):c.869+11T>C rs1957786211
NM_001044385.3(TMEM237):c.869+15T>C rs746945048
NM_001044385.3(TMEM237):c.869+16C>T rs980158363
NM_001044385.3(TMEM237):c.869+19G>C
NM_001044385.3(TMEM237):c.869+8C>G rs1238683224
NM_001044385.3(TMEM237):c.870-12T>C
NM_001044385.3(TMEM237):c.870-13_870-12del rs555284377
NM_001044385.3(TMEM237):c.870-4C>G rs1246454811
NM_001044385.3(TMEM237):c.879T>C (p.Phe293=) rs2105898446
NM_001044385.3(TMEM237):c.915C>T (p.Ala305=)
NM_001044385.3(TMEM237):c.943+15dup rs1486953270

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