ClinVar Miner

List of variants studied for Joubert syndrome with ocular defect by Invitae

Included ClinVar conditions (7):
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Minimum conflict level:
ClinVar version:
Total variants: 42
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HGVS dbSNP
NC_000002.11:g.(?_202483623)_(202512548_?)del
NC_000016.9:g.(?_75573872)_(75579413_?)del
NC_000016.9:g.(?_75573872)_(75579413_?)dup
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=) rs149240122
NM_001044385.3(TMEM237):c.169G>A (p.Ala57Thr)
NM_001044385.3(TMEM237):c.395+7A>G rs78297522
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter) rs199469707
NM_001044385.3(TMEM237):c.634T>C (p.Trp212Arg) rs200467447
NM_001044385.3(TMEM237):c.901C>T (p.Arg301Ter)
NM_001044385.3(TMEM237):c.9T>G (p.Thr3=) rs6736435
NM_001077416.2(TMEM231):c.10A>G (p.Arg4Gly)
NM_001077416.2(TMEM231):c.12G>A (p.Arg4=) rs115739052
NM_001077416.2(TMEM231):c.335C>A (p.Pro112Gln)
NM_001077416.2(TMEM231):c.653T>A (p.Val218Asp)
NM_001077416.2(TMEM231):c.73A>G (p.Met25Val)
NM_001077416.2(TMEM231):c.886T>C (p.Phe296Leu) rs746025189
NM_001077416.2(TMEM231):c.913C>G (p.Pro305Ala)
NM_001077416.2(TMEM231):c.957A>G (p.Val319=) rs772364535
NM_001077418.3(TMEM231):c.129C>T (p.Phe43=) rs377440297
NM_001077418.3(TMEM231):c.139+47C>A
NM_001077418.3(TMEM231):c.140-28C>G rs375353411
NM_001077418.3(TMEM231):c.177G>C (p.Pro59=) rs78196225
NM_001077418.3(TMEM231):c.470C>T (p.Ala157Val) rs201036290
NM_001077418.3(TMEM231):c.498G>A (p.Pro166=) rs201636741
NM_001077418.3(TMEM231):c.582+3A>G rs114290622
NM_001077418.3(TMEM231):c.582+8C>G rs144252983
NM_001077418.3(TMEM231):c.583-10C>T rs774265542
NM_001077418.3(TMEM231):c.625G>A (p.Asp209Asn) rs200799769
NM_001077418.3(TMEM231):c.664+4A>G rs760426025
NM_001077418.3(TMEM231):c.710G>C (p.Arg237Thr)
NM_001077418.3(TMEM231):c.891G>A (p.Val297=) rs149888762
NM_001077418.3(TMEM231):c.927_928inv (p.Asp309_Leu310delinsGluVal)
NM_018718.3(CEP41):c.1004G>A (p.Arg335Lys) rs782672149
NM_018718.3(CEP41):c.1009T>C (p.Ser337Pro) rs147444165
NM_018718.3(CEP41):c.1065C>G (p.Ser355Arg) rs116313397
NM_018718.3(CEP41):c.114A>G (p.Lys38=) rs1554421037
NM_018718.3(CEP41):c.208-5A>G rs11765434
NM_018718.3(CEP41):c.383A>G (p.Asn128Ser)
NM_018718.3(CEP41):c.473A>G (p.Lys158Arg) rs1554417299
NM_018718.3(CEP41):c.718T>G (p.Cys240Gly) rs113941736
NM_152388.4(TMEM237):c.653+1G>A
Single allele

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