ClinVar Miner

List of variants in gene TMEM231 reported as likely benign for Joubert syndrome

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_001077416.2(TMEM231):c.1086_1087invCT (p.Asp362_Leu363delinsGluVal)
NM_001077416.2(TMEM231):c.12G>A (p.Arg4=) rs115739052
NM_001077416.2(TMEM231):c.191C>T (p.Ser64Phe) rs377440297
NM_001077416.2(TMEM231):c.629C>T (p.Ala210Val) rs201036290
NM_001077416.2(TMEM231):c.742-10C>T rs774265542
NM_001077416.2(TMEM231):c.957A>G (p.Val319=) rs772364535

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