ClinVar Miner

List of variants in gene combination LOC130059440, TMEM231 reported as pathogenic for Joubert syndrome

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001077418.3(TMEM231):c.140-3C>G rs776673877
NM_001077418.3(TMEM231):c.140-8dup
NM_001077418.3(TMEM231):c.140-9_140-8del

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