ClinVar Miner

List of variants in gene TMEM67 studied for Joubert syndrome

Included ClinVar conditions (57):
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Gene type:
ClinVar version:
Total variants: 113
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HGVS dbSNP
NM_153704.5(TMEM67):c.*1434T>C rs886063178
NM_153704.5(TMEM67):c.*1653G>A rs544858713
NM_153704.5(TMEM67):c.*179T>C rs886063174
NM_153704.5(TMEM67):c.*218T>C rs886063175
NM_153704.5(TMEM67):c.*300G>A rs886063176
NM_153704.5(TMEM67):c.*852C>T rs114214029
NM_153704.5(TMEM67):c.*853G>A rs191740525
NM_153704.5(TMEM67):c.*941T>C rs112317911
NM_153704.5(TMEM67):c.*942G>A rs886063177
NM_153704.5(TMEM67):c.-33del rs145334032
NM_153704.5(TMEM67):c.1046T>C (p.Leu349Ser) rs386834180
NM_153704.5(TMEM67):c.1066-3C>T rs3097427
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.119_124CTTTCC[3] (p.Pro42_Phe43dup) rs886063171
NM_153704.5(TMEM67):c.120T>C (p.Ser40=) rs767999682
NM_153704.5(TMEM67):c.1309C>G (p.Leu437Val) rs35765535
NM_153704.5(TMEM67):c.130C>T (p.Gln44Ter) rs267607118
NM_153704.5(TMEM67):c.1318C>T (p.Arg440Trp)
NM_153704.5(TMEM67):c.1321C>T (p.Arg441Cys) rs752362727
NM_153704.5(TMEM67):c.1322G>T (p.Arg441Leu) rs386834183
NM_153704.5(TMEM67):c.1351C>T (p.Arg451Ter) rs116647652
NM_153704.5(TMEM67):c.1353del (p.Glu452fs) rs749435317
NM_153704.5(TMEM67):c.1373dup (p.Pro459fs)
NM_153704.5(TMEM67):c.1379G>C (p.Arg460Thr)
NM_153704.5(TMEM67):c.137C>T (p.Pro46Leu) rs199708882
NM_153704.5(TMEM67):c.1413-1G>C rs386834185
NM_153704.5(TMEM67):c.1421T>C (p.Leu474Pro) rs1554554236
NM_153704.5(TMEM67):c.1426C>T (p.Pro476Ser) rs145236803
NM_153704.5(TMEM67):c.1446C>T (p.Asn482=) rs774288177
NM_153704.5(TMEM67):c.1453C>T (p.Pro485Ser) rs863225228
NM_153704.5(TMEM67):c.1511C>A (p.Ser504Tyr) rs114655330
NM_153704.5(TMEM67):c.1538A>G (p.Tyr513Cys) rs137853107
NM_153704.5(TMEM67):c.1575+5G>A rs1554555063
NM_153704.5(TMEM67):c.1598G>A (p.Gly533Glu)
NM_153704.5(TMEM67):c.1634G>A (p.Gly545Glu) rs267607114
NM_153704.5(TMEM67):c.1645C>T (p.Arg549Cys) rs747025617
NM_153704.5(TMEM67):c.1674+3A>G rs863225224
NM_153704.5(TMEM67):c.1674+5A>T rs863224813
NM_153704.5(TMEM67):c.1700A>C (p.Tyr567Ser) rs148726767
NM_153704.5(TMEM67):c.1700A>G (p.Tyr567Cys) rs148726767
NM_153704.5(TMEM67):c.1714G>A (p.Ala572Thr) rs1281778614
NM_153704.5(TMEM67):c.1769T>C (p.Phe590Ser) rs267607115
NM_153704.5(TMEM67):c.1774-6_1774-3delinsATAA rs1554556213
NM_153704.5(TMEM67):c.1810A>G (p.Ile604Val) rs3134031
NM_153704.5(TMEM67):c.1843T>C (p.Cys615Arg) rs201893408
NM_153704.5(TMEM67):c.186T>C (p.Cys62=) rs115660279
NM_153704.5(TMEM67):c.1911C>A (p.Phe637Leu) rs863225225
NM_153704.5(TMEM67):c.1961-2A>C rs758948621
NM_153704.5(TMEM67):c.1961-7T>A rs1563472215
NM_153704.5(TMEM67):c.2009C>T (p.Thr670Ile) rs370004832
NM_153704.5(TMEM67):c.2086C>T (p.Leu696Phe) rs863225238
NM_153704.5(TMEM67):c.2128A>G (p.Met710Val)
NM_153704.5(TMEM67):c.2237T>C (p.Ile746Thr)
NM_153704.5(TMEM67):c.224G>A (p.Gly75Glu) rs780823805
NM_153704.5(TMEM67):c.2290C>T (p.Arg764Ter) rs751517725
NM_153704.5(TMEM67):c.2299G>A (p.Val767Ile) rs201949664
NM_153704.5(TMEM67):c.2314_2322+4delinsGG rs1064792983
NM_153704.5(TMEM67):c.2315_2322+5del13insGG rs1554557920
NM_153704.5(TMEM67):c.2322+2dupT rs386834192
NM_153704.5(TMEM67):c.2322+5delG rs863225240
NM_153704.5(TMEM67):c.2351G>A (p.Cys784Tyr)
NM_153704.5(TMEM67):c.2368C>A (p.His790Asn) rs863225230
NM_153704.5(TMEM67):c.2397T>C (p.Asp799=) rs117195541
NM_153704.5(TMEM67):c.2448G>A (p.Leu816=) rs886038738
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.2556+4T>G rs772449181
NM_153704.5(TMEM67):c.2556+5G>C rs886063172
NM_153704.5(TMEM67):c.2570C>G (p.Ala857Gly) rs201393025
NM_153704.5(TMEM67):c.2654T>C (p.Ile885Thr) rs1563481671
NM_153704.5(TMEM67):c.2661+5G>A rs863225239
NM_153704.5(TMEM67):c.2662G>T (p.Val888Phe)
NM_153704.5(TMEM67):c.2725G>C (p.Glu909Gln) rs878855230
NM_153704.5(TMEM67):c.2779T>C (p.Phe927Leu) rs1554561389
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.2892A>C (p.Thr964=) rs16916221
NM_153704.5(TMEM67):c.2924G>A (p.Arg975His) rs191759530
NM_153704.5(TMEM67):c.2928T>C (p.Asn976=) rs369812327
NM_153704.5(TMEM67):c.2952A>G (p.Ala984=) rs115967793
NM_153704.5(TMEM67):c.2975G>T (p.Arg992Ile) rs886063173
NM_153704.5(TMEM67):c.297G>T (p.Lys99Asn) rs797046045
NM_153704.5(TMEM67):c.29C>T (p.Ala10Val) rs146838062
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.443C>A (p.Ala148Glu) rs1563679408
NM_153704.5(TMEM67):c.511G>A (p.Val171Ile) rs200329273
NM_153704.5(TMEM67):c.515G>A (p.Arg172Gln) rs750950408
NM_153704.5(TMEM67):c.517T>C (p.Cys173Arg) rs138783896
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.638G>A (p.Arg213His) rs770605718
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.77T>C (p.Leu26Pro) rs886063170
NM_153704.5(TMEM67):c.781G>A (p.Asp261Asn) rs35793208
NM_153704.5(TMEM67):c.869+9A>G rs372597584
NM_153704.5(TMEM67):c.934T>C (p.Ser312Pro) rs864622335
NM_153704.5(TMEM67):c.978+3A>G rs775256658
TMEM67, IVS23+5G-C
TMEM67, PRO358LEU

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