ClinVar Miner

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

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Total variants: 16
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NM_001110556.2(FLNA):c.1034G>A (p.Trp345Ter)
NM_001110556.2(FLNA):c.1087C>T (p.Gln363Ter)
NM_001110556.2(FLNA):c.1159C>T (p.Gln387Ter)
NM_001110556.2(FLNA):c.1932_1938del (p.Val645fs)
NM_001110556.2(FLNA):c.2283dup (p.Asn762fs)
NM_001110556.2(FLNA):c.3529G>T (p.Glu1177Ter) rs1557177738
NM_001110556.2(FLNA):c.3742C>T (p.Gln1248Ter)
NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg) rs797045044
NM_001110556.2(FLNA):c.4824C>A (p.Tyr1608Ter)
NM_001110556.2(FLNA):c.5217G>A (p.Thr1739=) rs387907371
NM_001110556.2(FLNA):c.5760C>A (p.Cys1920Ter)
NM_001110556.2(FLNA):c.6586del (p.His2196fs)
NM_001110556.2(FLNA):c.7255C>T (p.Arg2419Ter) rs782308324
NM_001110556.2(FLNA):c.7612_7613del (p.Leu2538fs)
NM_001110556.2(FLNA):c.7779_7780insTTCGGGG (p.Val2594fs) rs1557175195
NM_001110556.2(FLNA):c.7872_7873del (p.Glu2625fs) rs1603358246

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