ClinVar Miner

List of variants reported as likely benign for Joubert syndrome with ocular defect

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_001044385.3(TMEM237):c.348G>A (p.Ala116=) rs191125006
NM_001077416.2(TMEM231):c.12G>A (p.Arg4=) rs115739052
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.470C>T (p.Ala157Val) rs201036290
NM_001077418.3(TMEM231):c.583-10C>T rs774265542
NM_001077418.3(TMEM231):c.927_928inv (p.Asp309_Leu310delinsGluVal)
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791
NM_017777.3(MKS1):c.1588+12C>G rs762501967
NM_017777.3(MKS1):c.1600C>A (p.Arg534=) rs772719574
NM_017777.3(MKS1):c.771G>A (p.Lys257=) rs886038632
NM_017777.3(MKS1):c.80+14C>G rs761061379
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

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