ClinVar Miner

List of variants reported as likely pathogenic for Joubert Syndrome and Related Disorders

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Total variants: 5
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HGVS dbSNP
NM_001174150.2(ARL13B):c.599G>A (p.Arg200His) rs764109067
NM_015681.5(B9D1):c.209T>C (p.Ile70Thr) rs886039811
NM_019892.6(INPP5E):c.1303C>T (p.Arg435Trp) rs756789619
NM_033402.5(LRRCC1):c.105-1G>C rs886039794
NM_153704.5(TMEM67):c.2707G>C (p.Glu903Gln) rs886039810

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