ClinVar Miner

List of variants studied for Joubert syndrome 6

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Total variants: 116
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HGVS dbSNP
NC_000008.11:g.93818128C>T
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.-200G>C rs79833026
NM_001142301.1(TMEM67):c.1332+5G>A rs1554555063
NM_001142301.1(TMEM67):c.1431+3A>G rs863225224
NM_001142301.1(TMEM67):c.1718-2A>C rs758948621
NM_001142301.1(TMEM67):c.2072_2079+4delinsG rs1554557920
NM_001142301.1(TMEM67):c.2079+2dup rs386834192
NM_001142301.1(TMEM67):c.2079+5del rs863225240
NM_001142301.1(TMEM67):c.2313+1G>T rs786200867
NM_001142301.1(TMEM67):c.2313+4T>G rs772449181
NM_001142301.1(TMEM67):c.2313+5G>C rs886063172
NM_001142301.1(TMEM67):c.2418+5G>A rs863225239
NM_001142301.1(TMEM67):c.408+2T>G rs199821258
NM_001142301.1(TMEM67):c.626+9A>G rs372597584
NM_001142301.1(TMEM67):c.735+3A>G rs775256658
NM_001142301.1(TMEM67):c.823-3C>T rs3097427
NM_153704.6(TMEM67):c.*1099A>G
NM_153704.6(TMEM67):c.*1424C>A
NM_153704.6(TMEM67):c.*19T>C rs55850117
NM_153704.6(TMEM67):c.*25C>T
NM_153704.6(TMEM67):c.*279T>C
NM_153704.6(TMEM67):c.*512T>C
NM_153704.6(TMEM67):c.*580A>G
NM_153704.6(TMEM67):c.*690T>A
NM_153704.6(TMEM67):c.*761T>G
NM_153704.6(TMEM67):c.*822G>A
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser) rs386834180
NM_153704.6(TMEM67):c.1073C>T (p.Pro358Leu) rs863225232
NM_153704.6(TMEM67):c.1081G>T (p.Glu361Ter) rs863225237
NM_153704.6(TMEM67):c.1115C>A (p.Thr372Lys) rs863225235
NM_153704.6(TMEM67):c.1126C>G (p.Gln376Glu) rs863225231
NM_153704.6(TMEM67):c.120T>C (p.Ser40=) rs767999682
NM_153704.6(TMEM67):c.130C>T (p.Gln44Ter) rs267607118
NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys) rs752362727
NM_153704.6(TMEM67):c.1351C>T (p.Arg451Ter) rs116647652
NM_153704.6(TMEM67):c.1379G>C (p.Arg460Thr) rs375991767
NM_153704.6(TMEM67):c.137C>T (p.Pro46Leu) rs199708882
NM_153704.6(TMEM67):c.1421T>C (p.Leu474Pro) rs1554554236
NM_153704.6(TMEM67):c.1446C>T (p.Asn482=) rs774288177
NM_153704.6(TMEM67):c.1453C>T (p.Pro485Ser) rs863225228
NM_153704.6(TMEM67):c.1511C>A (p.Ser504Tyr) rs114655330
NM_153704.6(TMEM67):c.1538A>G (p.Tyr513Cys) rs137853107
NM_153704.6(TMEM67):c.1588G>A (p.Val530Ile)
NM_153704.6(TMEM67):c.1598G>A (p.Gly533Glu) rs1586063519
NM_153704.6(TMEM67):c.1634G>A (p.Gly545Glu) rs267607114
NM_153704.6(TMEM67):c.1700A>C (p.Tyr567Ser) rs148726767
NM_153704.6(TMEM67):c.1714G>A (p.Ala572Thr) rs1281778614
NM_153704.6(TMEM67):c.1769T>C (p.Phe590Ser) rs267607115
NM_153704.6(TMEM67):c.1781A>G (p.Lys594Arg)
NM_153704.6(TMEM67):c.1810A>G (p.Ile604Val) rs3134031
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg) rs201893408
NM_153704.6(TMEM67):c.186T>C (p.Cys62=) rs115660279
NM_153704.6(TMEM67):c.1911C>A (p.Phe637Leu) rs863225225
NM_153704.6(TMEM67):c.1976G>A (p.Arg659Gln)
NM_153704.6(TMEM67):c.2086C>T (p.Leu696Phe) rs863225238
NM_153704.6(TMEM67):c.2161C>T (p.Pro721Ser) rs116445698
NM_153704.6(TMEM67):c.2241G>A (p.Gln747=) rs115563233
NM_153704.6(TMEM67):c.2242-7G>A
NM_153704.6(TMEM67):c.2278G>C (p.Glu760Gln)
NM_153704.6(TMEM67):c.2290C>T (p.Arg764Ter) rs751517725
NM_153704.6(TMEM67):c.2291G>A (p.Arg764Gln)
NM_153704.6(TMEM67):c.2299G>A (p.Val767Ile) rs201949664
NM_153704.6(TMEM67):c.2368C>A (p.His790Asn) rs863225230
NM_153704.6(TMEM67):c.2397T>C (p.Asp799=) rs117195541
NM_153704.6(TMEM67):c.2439+5G>C rs756686115
NM_153704.6(TMEM67):c.2448G>A (p.Leu816=) rs886038738
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.2498T>C (p.Ile833Thr) rs267607119
NM_153704.6(TMEM67):c.2522A>C (p.Gln841Pro) rs863225234
NM_153704.6(TMEM67):c.2570C>G (p.Ala857Gly) rs201393025
NM_153704.6(TMEM67):c.269A>G (p.Asn90Ser)
NM_153704.6(TMEM67):c.2764+10A>T
NM_153704.6(TMEM67):c.2779T>C (p.Phe927Leu) rs1554561389
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.282T>C (p.Ala94=)
NM_153704.6(TMEM67):c.2848G>A (p.Val950Met) rs771551765
NM_153704.6(TMEM67):c.2892A>C (p.Thr964=) rs16916221
NM_153704.6(TMEM67):c.2907+9T>C
NM_153704.6(TMEM67):c.2924G>A (p.Arg975His) rs191759530
NM_153704.6(TMEM67):c.2928T>C (p.Asn976=) rs369812327
NM_153704.6(TMEM67):c.2952A>G (p.Ala984=) rs115967793
NM_153704.6(TMEM67):c.2975G>T (p.Arg992Ile) rs886063173
NM_153704.6(TMEM67):c.297G>T (p.Lys99Asn) rs797046045
NM_153704.6(TMEM67):c.29C>T (p.Ala10Val) rs146838062
NM_153704.6(TMEM67):c.300C>A (p.Cys100Ter) rs751309268
NM_153704.6(TMEM67):c.313-3T>G rs1586336362
NM_153704.6(TMEM67):c.369C>T (p.Ala123=) rs115640152
NM_153704.6(TMEM67):c.389C>G (p.Pro130Arg) rs863225226
NM_153704.6(TMEM67):c.406G>C (p.Val136Leu)
NM_153704.6(TMEM67):c.515G>A (p.Arg172Gln) rs750950408
NM_153704.6(TMEM67):c.539C>T (p.Thr180Ile)
NM_153704.6(TMEM67):c.579_580del (p.Gly195fs) rs386834202
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter) rs137853108
NM_153704.6(TMEM67):c.628T>C (p.Ser210Pro) rs771718467
NM_153704.6(TMEM67):c.653G>C (p.Gly218Ala) rs202036490
NM_153704.6(TMEM67):c.675G>A (p.Trp225Ter) rs386834205
NM_153704.6(TMEM67):c.725A>G (p.Asn242Ser) rs775883520
NM_153704.6(TMEM67):c.730A>G (p.Thr244Ala) rs863225229
NM_153704.6(TMEM67):c.755T>C (p.Met252Thr) rs202149403
NM_153704.6(TMEM67):c.769A>G (p.Met257Val) rs863225227
NM_153704.6(TMEM67):c.77T>C (p.Leu26Pro) rs886063170
NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys) rs111619594
TMEM67, PRO358LEU

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