ClinVar Miner

List of variants studied for Joubert syndrome 6 by Illumina Clinical Services Laboratory,Illumina

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Total variants: 61
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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.2313+4T>G rs772449181
NM_001142301.1(TMEM67):c.2313+5G>C rs886063172
NM_001142301.1(TMEM67):c.626+9A>G rs372597584
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.120T>C (p.Ser40=) rs767999682
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.1446C>T (p.Asn482=) rs774288177
NM_153704.6(TMEM67):c.1511C>A (p.Ser504Tyr) rs114655330
NM_153704.6(TMEM67):c.1588G>A (p.Val530Ile)
NM_153704.6(TMEM67):c.1700A>C (p.Tyr567Ser) rs148726767
NM_153704.6(TMEM67):c.1781A>G (p.Lys594Arg)
NM_153704.6(TMEM67):c.1810A>G (p.Ile604Val) rs3134031
NM_153704.6(TMEM67):c.186T>C (p.Cys62=) rs115660279
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.2291G>A (p.Arg764Gln)
NM_153704.6(TMEM67):c.2299G>A (p.Val767Ile) rs201949664
NM_153704.6(TMEM67):c.2397T>C (p.Asp799=) rs117195541
NM_153704.6(TMEM67):c.2448G>A (p.Leu816=) rs886038738
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.282T>C (p.Ala94=)
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.29C>T (p.Ala10Val) rs146838062
NM_153704.6(TMEM67):c.369C>T (p.Ala123=) rs115640152
NM_153704.6(TMEM67):c.539C>T (p.Thr180Ile)
NM_153704.6(TMEM67):c.653G>C (p.Gly218Ala) rs202036490
NM_153704.6(TMEM67):c.77T>C (p.Leu26Pro) rs886063170
NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys) rs111619594

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