ClinVar Miner

List of variants reported as likely pathogenic for Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia

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Total variants: 4

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HGVS	dbSNP
NM_001110556.2(FLNA):c.1065+1G>T
NM_001110556.2(FLNA):c.2827-2A>C
NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp)	rs137853317
NM_001110556.2(FLNA):c.7768_7770CTG[1] (p.Leu2591del)

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