ClinVar Miner

List of variants in gene FLNA, LOC107988032 studied for Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia

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Total variants: 19
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HGVS dbSNP
NM_001110556.2(FLNA):c.7555C>T (p.Pro2519Ser) rs782383611
NM_001110556.2(FLNA):c.7558C>T (p.Arg2520Cys) rs782244918
NM_001110556.2(FLNA):c.7559G>A (p.Arg2520His)
NM_001110556.2(FLNA):c.7596A>G (p.Ser2532=) rs200694807
NM_001110556.2(FLNA):c.7612_7613del (p.Leu2538fs)
NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr)
NM_001110556.2(FLNA):c.7655C>T (p.Pro2552Leu) rs1334045176
NM_001110556.2(FLNA):c.7656T>A (p.Pro2552=)
NM_001110556.2(FLNA):c.7686C>T (p.Ala2562=) rs76337075
NM_001110556.2(FLNA):c.7714G>A (p.Val2572Ile)
NM_001110556.2(FLNA):c.7738G>A (p.Val2580Ile) rs377518545
NM_001110556.2(FLNA):c.7756+8A>G rs201663443
NM_001110556.2(FLNA):c.7768_7770CTG[1] (p.Leu2591del)
NM_001110556.2(FLNA):c.7779_7780insTTCGGGG (p.Val2594fs) rs1557175195
NM_001110556.2(FLNA):c.7843A>G (p.Ser2615Gly)
NM_001110556.2(FLNA):c.7846G>A (p.Val2616Met) rs369791082
NM_001110556.2(FLNA):c.7862A>G (p.Lys2621Arg)
NM_001110556.2(FLNA):c.7872_7873del (p.Glu2625fs) rs1603358246
NM_001110556.2(FLNA):c.7903G>A (p.Glu2635Lys) rs369717556

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