ClinVar Miner

List of variants in gene TMEM67 studied for Joubert syndrome 1

Included ClinVar conditions (10):
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Gene type:
ClinVar version:
Total variants: 66
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HGVS dbSNP
NM_001142301.1(TMEM67):c.*1434T>C rs886063178
NM_001142301.1(TMEM67):c.*1653G>A rs544858713
NM_001142301.1(TMEM67):c.*179T>C rs886063174
NM_001142301.1(TMEM67):c.*218T>C rs886063175
NM_001142301.1(TMEM67):c.*300G>A rs886063176
NM_001142301.1(TMEM67):c.*852C>T rs114214029
NM_001142301.1(TMEM67):c.*853G>A rs191740525
NM_001142301.1(TMEM67):c.*941T>C rs112317911
NM_001142301.1(TMEM67):c.*942G>A rs886063177
NM_001142301.1(TMEM67):c.-148C>T rs199708882
NM_001142301.1(TMEM67):c.-165T>C rs767999682
NM_001142301.1(TMEM67):c.-166_-161CTTTCC[3] rs886063171
NM_001142301.1(TMEM67):c.-179-29T>C rs886063170
NM_001142301.1(TMEM67):c.-180+30G>A rs199961375
NM_001142301.1(TMEM67):c.-180+34C>T rs146838062
NM_001142301.1(TMEM67):c.-207del rs145334032
NM_001142301.1(TMEM67):c.-62+641G>A rs780823805
NM_001142301.1(TMEM67):c.-99T>C rs115660279
NM_001142301.1(TMEM67):c.1075C>T (p.Arg359Trp)
NM_001142301.1(TMEM67):c.1078C>T (p.Arg360Cys) rs752362727
NM_001142301.1(TMEM67):c.1079G>T (p.Arg360Leu) rs386834183
NM_001142301.1(TMEM67):c.1136G>C (p.Arg379Thr)
NM_001142301.1(TMEM67):c.1170-1G>C rs386834185
NM_001142301.1(TMEM67):c.1203C>T (p.Asn401=) rs774288177
NM_001142301.1(TMEM67):c.1268C>A (p.Ser423Tyr) rs114655330
NM_001142301.1(TMEM67):c.1402C>T (p.Arg468Cys) rs747025617
NM_001142301.1(TMEM67):c.1431+5A>T rs863224813
NM_001142301.1(TMEM67):c.1457A>C (p.Tyr486Ser) rs148726767
NM_001142301.1(TMEM67):c.1457A>G (p.Tyr486Cys) rs148726767
NM_001142301.1(TMEM67):c.1531-6_1531-3inv rs1554556213
NM_001142301.1(TMEM67):c.1567A>G (p.Ile523Val) rs3134031
NM_001142301.1(TMEM67):c.1600T>C (p.Cys534Arg) rs201893408
NM_001142301.1(TMEM67):c.1718-7T>A rs1563472215
NM_001142301.1(TMEM67):c.1885A>G (p.Met629Val)
NM_001142301.1(TMEM67):c.1994T>C (p.Ile665Thr)
NM_001142301.1(TMEM67):c.200C>A (p.Ala67Glu) rs1563679408
NM_001142301.1(TMEM67):c.2056G>A (p.Val686Ile) rs201949664
NM_001142301.1(TMEM67):c.2071_2079+4delinsGG rs1064792983
NM_001142301.1(TMEM67):c.2108G>A (p.Cys703Tyr)
NM_001142301.1(TMEM67):c.2205G>A (p.Leu735=) rs886038738
NM_001142301.1(TMEM67):c.2255T>C (p.Ile752Thr) rs267607119
NM_001142301.1(TMEM67):c.2313+4T>G rs772449181
NM_001142301.1(TMEM67):c.2313+5G>C rs886063172
NM_001142301.1(TMEM67):c.2327C>G (p.Ala776Gly) rs201393025
NM_001142301.1(TMEM67):c.2411T>C (p.Ile804Thr) rs1563481671
NM_001142301.1(TMEM67):c.2419G>T (p.Val807Phe)
NM_001142301.1(TMEM67):c.2482G>C (p.Glu828Gln) rs878855230
NM_001142301.1(TMEM67):c.2649A>C (p.Thr883=) rs16916221
NM_001142301.1(TMEM67):c.2681G>A (p.Arg894His) rs191759530
NM_001142301.1(TMEM67):c.2685T>C (p.Asn895=) rs369812327
NM_001142301.1(TMEM67):c.268G>A (p.Val90Ile) rs200329273
NM_001142301.1(TMEM67):c.2732G>T (p.Arg911Ile) rs886063173
NM_001142301.1(TMEM67):c.274T>C (p.Cys92Arg) rs138783896
NM_001142301.1(TMEM67):c.336_337del (p.Gly114fs) rs386834202
NM_001142301.1(TMEM67):c.379A>T (p.Arg127Ter) rs137853108
NM_001142301.1(TMEM67):c.395G>A (p.Arg132His) rs770605718
NM_001142301.1(TMEM67):c.482A>G (p.Asn161Ser) rs775883520
NM_001142301.1(TMEM67):c.626+9A>G rs372597584
NM_001142301.1(TMEM67):c.691T>C (p.Ser231Pro) rs864622335
NM_001142301.1(TMEM67):c.803T>C (p.Leu268Ser) rs386834180
NM_001142301.1(TMEM67):c.823-3C>T rs3097427
NM_001142301.1(TMEM67):c.835A>G (p.Thr279Ala) rs140191346
NM_001142301.1(TMEM67):c.872C>A (p.Thr291Lys) rs863225235
NM_153704.6(TMEM67):c.1373dup (p.Pro459fs)
NM_153704.6(TMEM67):c.2201_2208dup (p.Ala737fs)
NM_153704.6(TMEM67):c.2485C>G (p.Gln829Glu)

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