ClinVar Miner

List of variants in gene TMEM67 reported as pathogenic for Joubert syndrome 6

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter) rs137853108 0.00026
NM_153704.6(TMEM67):c.224-2del rs386834190 0.00010
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg) rs201893408 0.00009
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr) rs267607119 0.00009
NM_153704.6(TMEM67):c.579_580del (p.Gly195fs) rs386834202 0.00006
NM_153704.6(TMEM67):c.755T>C (p.Met252Thr) rs202149403 0.00006
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser) rs386834180 0.00004
NM_153704.6(TMEM67):c.1975C>T (p.Arg659Ter) rs150332116 0.00004
NM_153704.6(TMEM67):c.651+2T>G rs199821258 0.00003
NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys) rs752362727 0.00002
NM_153704.6(TMEM67):c.2290C>T (p.Arg764Ter) rs751517725 0.00002
NM_153704.6(TMEM67):c.514C>T (p.Arg172Ter) rs765468645 0.00002
NM_153704.6(TMEM67):c.1073C>T (p.Pro358Leu) rs863225232 0.00001
NM_153704.6(TMEM67):c.1115C>A (p.Thr372Lys) rs863225235 0.00001
NM_153704.6(TMEM67):c.1126C>G (p.Gln376Glu) rs863225231 0.00001
NM_153704.6(TMEM67):c.130C>T (p.Gln44Ter) rs267607118 0.00001
NM_153704.6(TMEM67):c.1351C>T (p.Arg451Ter) rs116647652 0.00001
NM_153704.6(TMEM67):c.1769T>C (p.Phe590Ser) rs267607115 0.00001
NM_153704.6(TMEM67):c.2322+2dup rs386834192 0.00001
NM_153704.6(TMEM67):c.2439+5G>C rs756686115 0.00001
NM_153704.6(TMEM67):c.300C>A (p.Cys100Ter) rs751309268 0.00001
NM_153704.6(TMEM67):c.312+5G>A rs786200868 0.00001
NM_153704.6(TMEM67):c.515G>A (p.Arg172Gln) rs750950408 0.00001
NM_153704.6(TMEM67):c.675G>A (p.Trp225Ter) rs386834205 0.00001
NM_153704.6(TMEM67):c.725A>G (p.Asn242Ser) rs775883520 0.00001
NM_153704.6(TMEM67):c.769A>G (p.Met257Val) rs863225227 0.00001
NM_153704.6(TMEM67):c.1081G>T (p.Glu361Ter) rs863225237
NM_153704.6(TMEM67):c.1453C>T (p.Pro485Ser) rs863225228
NM_153704.6(TMEM67):c.1538A>G (p.Tyr513Cys) rs137853107
NM_153704.6(TMEM67):c.1674+3A>G rs863225224
NM_153704.6(TMEM67):c.1911C>A (p.Phe637Leu) rs863225225
NM_153704.6(TMEM67):c.1961-2A>C rs758948621
NM_153704.6(TMEM67):c.2153_2154del (p.Arg718fs)
NM_153704.6(TMEM67):c.230C>A (p.Ser77Ter) rs1812544253
NM_153704.6(TMEM67):c.2315_2322+4delinsG rs1554557920
NM_153704.6(TMEM67):c.2323-2A>G
NM_153704.6(TMEM67):c.2368C>A (p.His790Asn) rs863225230
NM_153704.6(TMEM67):c.2410G>T (p.Glu804Ter) rs1554558363
NM_153704.6(TMEM67):c.244C>T (p.Pro82Ser) rs762543032
NM_153704.6(TMEM67):c.245C>G (p.Pro82Arg) rs772437766
NM_153704.6(TMEM67):c.2461G>A (p.Gly821Ser) rs267607116
NM_153704.6(TMEM67):c.2461G>C (p.Gly821Arg) rs267607116
NM_153704.6(TMEM67):c.2522A>C (p.Gln841Pro) rs863225234
NM_153704.6(TMEM67):c.2556+1G>T rs786200867
NM_153704.6(TMEM67):c.2801G>A (p.Gly934Glu) rs863225236
NM_153704.6(TMEM67):c.2825T>G (p.Phe942Cys) rs863225233
NM_153704.6(TMEM67):c.389C>G (p.Pro130Arg) rs863225226
NM_153704.6(TMEM67):c.730A>G (p.Thr244Ala) rs863225229
NM_153704.6(TMEM67):c.978+3A>G rs775256658
NM_153704.6(TMEM67):c.[1634G>A;2241G>A]

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