ClinVar Miner

List of variants in gene FLNA studied for Melnick-Needles syndrome

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001110556.2(FLNA):c.3023T>C (p.Ile1008Thr) rs1557178033 0.00001
NM_001110556.2(FLNA):c.546G>C (p.Gln182His) rs1557179648 0.00001
NM_001110556.2(FLNA):c.1366G>A (p.Val456Met) rs782495199
NM_001110556.2(FLNA):c.3552C>A (p.Asp1184Glu) rs80338837
NM_001110556.2(FLNA):c.3562G>A (p.Ala1188Thr) rs28935472
NM_001110556.2(FLNA):c.3596C>T (p.Ser1199Leu) rs28935473
NM_001110556.2(FLNA):c.5183G>T (p.Gly1728Val) rs2148107380
NM_001110556.2(FLNA):c.623-8C>A rs111542756
NM_001110556.2(FLNA):c.6904C>T (p.Pro2302Ser) rs201008265

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