ClinVar Miner

List of variants studied for Diencephalic-mesencephalic junction dysplasia syndrome 1 by Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_016580.4(PCDH12):c.2515C>T (p.Arg839Ter)	rs375346212	0.00001
NM_016580.4(PCDH12):c.643A>C (p.Thr215Pro)	rs1389877870

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