ClinVar Miner

List of variants reported as pathogenic for Periventricular nodular heterotopia

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001110556.2(FLNA):c.1027_1028del (p.Ser343fs)	rs1557179349
NM_001110556.2(FLNA):c.3775C>T (p.Gln1259Ter)	rs1557177663
NM_007294.4(BRCA1):c.806T>A (p.Leu269Ter)	rs2154492047

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