List of variants studied for obsolete Ehlers-Danlos syndrome with periventricular heterotopia by OMIM

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001110556.2(FLNA):c.1966C>T (p.Leu656Phe)	rs137853311	0.00001
NM_001110556.2(FLNA):c.116C>G (p.Ala39Gly)	rs137853313
NM_001110556.2(FLNA):c.1923C>T (p.Gly641=)	rs80338841
NM_001110556.2(FLNA):c.245A>T (p.Glu82Val)	rs28935169
NM_001110556.2(FLNA):c.2762del (p.Arg921fs)	rs1569551736
NM_001110556.2(FLNA):c.287_291del (p.Arg96fs)	rs863223297
NM_001110556.2(FLNA):c.373+1G>A	rs863223296
NM_001110556.2(FLNA):c.383C>T (p.Ala128Val)	rs137853315
NM_001110556.2(FLNA):c.4147del (p.Ala1383fs)	rs863223299
NM_001110556.2(FLNA):c.544C>T (p.Gln182Ter)	rs137853310
NM_001110556.2(FLNA):c.623-3C>G	rs398123622
NM_001110556.2(FLNA):c.6915C>G (p.Tyr2305Ter)	rs781910090
NM_001110556.2(FLNA):c.720+2T>C	rs863223295
NM_001110556.2(FLNA):c.7896G>A (p.Trp2632Ter)	rs398122812

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