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:
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Show significances as they were submitted (without aggregation into standard terms)
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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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