ClinVar Miner

List of variants in gene TMEM237 studied for Joubert syndrome 1

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 52
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HGVS dbSNP
NM_001044385.2(TMEM237):c.*1107C>T rs143516209
NM_001044385.2(TMEM237):c.*1108A>G rs758086204
NM_001044385.2(TMEM237):c.*1151C>T rs188943302
NM_001044385.2(TMEM237):c.*1303G>A rs886055444
NM_001044385.2(TMEM237):c.*1378A>G rs886055443
NM_001044385.2(TMEM237):c.*1603T>G rs886055442
NM_001044385.2(TMEM237):c.*1762G>A rs886055441
NM_001044385.2(TMEM237):c.*2044T>C rs886055440
NM_001044385.2(TMEM237):c.*2141C>T rs147652455
NM_001044385.2(TMEM237):c.*2142G>C rs76042698
NM_001044385.2(TMEM237):c.*2431T>G rs142355657
NM_001044385.2(TMEM237):c.*2465A>G rs527921749
NM_001044385.2(TMEM237):c.*2480T>G rs75655554
NM_001044385.2(TMEM237):c.*2582G>T rs886055439
NM_001044385.2(TMEM237):c.*258delA rs558670305
NM_001044385.2(TMEM237):c.*2682G>C rs886055438
NM_001044385.2(TMEM237):c.*2719G>A rs142852956
NM_001044385.2(TMEM237):c.*283A>C rs886055446
NM_001044385.2(TMEM237):c.*2960C>A rs188637429
NM_001044385.2(TMEM237):c.*3013A>G rs886055437
NM_001044385.2(TMEM237):c.*308T>G rs185380807
NM_001044385.2(TMEM237):c.*3372C>T rs192214909
NM_001044385.2(TMEM237):c.*3385C>T rs374762322
NM_001044385.2(TMEM237):c.*3453T>G rs77771615
NM_001044385.2(TMEM237):c.*3513delT rs143218667
NM_001044385.2(TMEM237):c.*3697G>A rs761856568
NM_001044385.2(TMEM237):c.*3728A>G rs555315551
NM_001044385.2(TMEM237):c.*3855A>G rs187328136
NM_001044385.2(TMEM237):c.*4020T>A rs886055435
NM_001044385.2(TMEM237):c.*470_*473delGAGT rs886055445
NM_001044385.2(TMEM237):c.*492T>C rs530304720
NM_001044385.2(TMEM237):c.*714_*715delAG rs373844800
NM_001044385.2(TMEM237):c.*987C>T rs568084746
NM_001044385.2(TMEM237):c.-126G>A rs572770188
NM_001044385.2(TMEM237):c.-12G>A rs113186360
NM_001044385.2(TMEM237):c.-25G>A rs568671275
NM_001044385.2(TMEM237):c.-59G>A rs886055449
NM_001044385.2(TMEM237):c.-61G>A rs571550977
NM_001044385.2(TMEM237):c.-67T>G rs886055450
NM_001044385.2(TMEM237):c.1024A>G (p.Asn342Asp) rs372686071
NM_001044385.2(TMEM237):c.1096G>T (p.Ala366Ser) rs73989521
NM_001044385.2(TMEM237):c.1115C>G (p.Ser372Cys) rs886055447
NM_001044385.2(TMEM237):c.395+7A>G rs78297522
NM_001044385.2(TMEM237):c.439G>A (p.Val147Ile) rs200531617
NM_001044385.2(TMEM237):c.52C>T (p.Arg18Ter) rs199469707
NM_001044385.2(TMEM237):c.668G>A (p.Arg223Gln) rs770053080
NM_001044385.2(TMEM237):c.736G>A (p.Val246Met) rs886055448
NM_001044385.2(TMEM237):c.75-13T>C rs116829037
NM_001044385.2(TMEM237):c.80-11T>C rs76296365
NM_001044385.2(TMEM237):c.807G>A (p.Ala269=) rs763452347
NM_001044385.2(TMEM237):c.870-13_870-12delTT rs555284377
NM_001044385.2(TMEM237):c.9T>G (p.Thr3=) rs6736435

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