ClinVar Miner

List of variants reported as pathogenic for Joubert syndrome with ocular defect by Invitae

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NC_000002.11:g.(?_202483623)_(202512548_?)del
NC_000016.9:g.(?_75573872)_(75579413_?)del
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter) rs199469707
NM_001044385.3(TMEM237):c.901C>T (p.Arg301Ter)
NM_001077418.3(TMEM231):c.139+47C>A
NM_001077418.3(TMEM231):c.625G>A (p.Asp209Asn) rs200799769
NM_001077418.3(TMEM231):c.664+4A>G rs760426025
NM_152388.4(TMEM237):c.653+1G>A

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