ClinVar Miner

List of variants reported as likely pathogenic for periventricular nodular heterotopia 8 by Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris

Included ClinVar conditions (1):

Periventricular nodular heterotopia 8

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001658.4(ARF1):c.278A>G (p.Asp93Gly)	rs2124857932
NM_001658.4(ARF1):c.295C>T (p.Arg99Cys)	rs2124857939
NM_001658.4(ARF1):c.55C>T (p.Arg19Cys)	rs2124857065

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