ClinVar Miner

List of variants reported as likely pathogenic for Joubert syndrome by Broad Institute Rare Disease Group,Broad Institute

Included ClinVar conditions (64):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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NM_001044385.3(TMEM237):c.418C>T (p.Gln140Ter) rs972221242
NM_001044385.3(TMEM237):c.80-2A>G rs1445957469
NM_001142301.1(TMEM67):c.1332+5G>A rs1554555063
NM_015272.5(RPGRIP1L):c.3594G>A (p.Trp1198Ter) rs1567800920
NM_023073.3(CPLANE1):c.3577C>T (p.Arg1193Cys) rs149170427
NM_023073.3(CPLANE1):c.8696G>A (p.Trp2899Ter) rs1482303814
NM_025114.4(CEP290):c.1606C>T (p.Gln536Ter) rs1465414886
NM_025114.4(CEP290):c.4788_4791AAAT[1] (p.Lys1598fs) rs1592833648
NM_025114.4(CEP290):c.5776C>T (p.Arg1926Ter) rs561598805
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr) rs267607119
NM_153704.6(TMEM67):c.2848G>A (p.Val950Met) rs771551765

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