ClinVar Miner

List of variants in gene TMEM231 reported as pathogenic for Joubert syndrome with ocular defect

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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NM_001077416.2(TMEM231):c.74T>A (p.Met25Lys) rs397514609
NM_001077418.3(TMEM231):c.139+47C>A rs200063331
NM_001077418.3(TMEM231):c.373C>G (p.Pro125Ala)
NM_001077418.3(TMEM231):c.625G>A (p.Asp209Asn) rs200799769
NM_001077418.3(TMEM231):c.664+4A>G rs760426025

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