ClinVar Miner

List of variants reported as likely pathogenic for Joubert syndrome 1 by UW Hindbrain Malformation Research Program,University of Washington

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_006346.4(PIBF1):c.1214G>A (p.Arg405Gln) rs17089782
NM_006346.4(PIBF1):c.1669del (p.Leu557fs) rs863225214
NM_017777.3(MKS1):c.1389G>T (p.Arg463=) rs773269657
NM_017777.3(MKS1):c.493C>T (p.Arg165Cys) rs779953982

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