ClinVar Miner

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

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP
NC_000002.11:g.(?_202466462)_(202508123_?)del
NC_000002.12:g.(?_201618900)_(201647825_?)del
NC_000016.10:g.(?_75539974)_(75545515_?)del
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter) rs199469707
NM_001044385.3(TMEM237):c.553+1G>A
NM_001044385.3(TMEM237):c.605_606del (p.Ile202fs)
NM_001044385.3(TMEM237):c.677+1G>A rs793888505
NM_001044385.3(TMEM237):c.890C>G (p.Ser297Ter)
NM_001044385.3(TMEM237):c.901C>T (p.Arg301Ter) rs775449384
NM_001044385.3(TMEM237):c.943+1G>T rs748510210
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
NM_018718.3(CEP41):c.423-2A>C rs781815473
NM_018718.3(CEP41):c.423-2A>G

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