ClinVar Miner

List of variants in gene TMEM67 reported as pathogenic for Joubert syndrome

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 45
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HGVS dbSNP
NM_153704.5(TMEM67):c.1046T>C (p.Leu349Ser) rs386834180
NM_153704.5(TMEM67):c.1073C>T (p.Pro358Leu) rs863225232
NM_153704.5(TMEM67):c.1081G>T (p.Glu361Ter) rs863225237
NM_153704.5(TMEM67):c.1115C>A (p.Thr372Lys) rs863225235
NM_153704.5(TMEM67):c.1126C>G (p.Gln376Glu) rs863225231
NM_153704.5(TMEM67):c.130C>T (p.Gln44Ter) rs267607118
NM_153704.5(TMEM67):c.1321C>T (p.Arg441Cys) rs752362727
NM_153704.5(TMEM67):c.1351C>T (p.Arg451Ter) rs116647652
NM_153704.5(TMEM67):c.1373dup (p.Pro459fs)
NM_153704.5(TMEM67):c.1413-1G>C rs386834185
NM_153704.5(TMEM67):c.1453C>T (p.Pro485Ser) rs863225228
NM_153704.5(TMEM67):c.1538A>G (p.Tyr513Cys) rs137853107
NM_153704.5(TMEM67):c.1634G>A (p.Gly545Glu) rs267607114
NM_153704.5(TMEM67):c.1674+3A>G rs863225224
NM_153704.5(TMEM67):c.1769T>C (p.Phe590Ser) rs267607115
NM_153704.5(TMEM67):c.1843T>C (p.Cys615Arg) rs201893408
NM_153704.5(TMEM67):c.1911C>A (p.Phe637Leu) rs863225225
NM_153704.5(TMEM67):c.1961-2A>C rs758948621
NM_153704.5(TMEM67):c.2290C>T (p.Arg764Ter) rs751517725
NM_153704.5(TMEM67):c.2314_2322+4delinsGG rs1064792983
NM_153704.5(TMEM67):c.2315_2322+5del13insGG rs1554557920
NM_153704.5(TMEM67):c.2368C>A (p.His790Asn) rs863225230
NM_153704.5(TMEM67):c.244C>T (p.Pro82Ser) rs762543032
NM_153704.5(TMEM67):c.245C>G (p.Pro82Arg) rs772437766
NM_153704.5(TMEM67):c.2461G>A (p.Gly821Ser) rs267607116
NM_153704.5(TMEM67):c.2461G>C (p.Gly821Arg) rs267607116
NM_153704.5(TMEM67):c.2498T>C (p.Ile833Thr) rs267607119
NM_153704.5(TMEM67):c.2522A>C (p.Gln841Pro) rs863225234
NM_153704.5(TMEM67):c.2556+1G>T rs786200867
NM_153704.5(TMEM67):c.2801G>A (p.Gly934Glu) rs863225236
NM_153704.5(TMEM67):c.2825T>G (p.Phe942Cys) rs863225233
NM_153704.5(TMEM67):c.300C>A (p.Cys100Ter) rs751309268
NM_153704.5(TMEM67):c.389C>G (p.Pro130Arg) rs863225226
NM_153704.5(TMEM67):c.515G>A (p.Arg172Gln) rs750950408
NM_153704.5(TMEM67):c.579_580del (p.Gly195fs) rs386834202
NM_153704.5(TMEM67):c.622A>T (p.Arg208Ter) rs137853108
NM_153704.5(TMEM67):c.651+2T>G rs199821258
NM_153704.5(TMEM67):c.675G>A (p.Trp225Ter) rs386834205
NM_153704.5(TMEM67):c.725A>G (p.Asn242Ser) rs775883520
NM_153704.5(TMEM67):c.730A>G (p.Thr244Ala) rs863225229
NM_153704.5(TMEM67):c.755T>C (p.Met252Thr) rs202149403
NM_153704.5(TMEM67):c.769A>G (p.Met257Val) rs863225227
NM_153704.5(TMEM67):c.978+3A>G rs775256658
TMEM67, IVS23+5G-C
TMEM67, PRO358LEU

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