ClinVar Miner

List of variants in gene FLNA reported as pathogenic for X-linked syndromic intellectual disability

Included ClinVar conditions (168):
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Gene type:
ClinVar version:
Total variants: 24
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HGVS dbSNP
NM_001110556.2(FLNA):c.2452del (p.Ala818fs)
NM_001110556.2(FLNA):c.2565+1G>A
NM_001110556.2(FLNA):c.3296_3304delinsTCGG (p.Gly1099fs)
NM_001110556.2(FLNA):c.3476A>C (p.Asp1159Ala) rs28935471
NM_001110556.2(FLNA):c.3529G>T (p.Glu1177Ter) rs1557177738
NM_001110556.2(FLNA):c.3552C>A (p.Asp1184Glu) rs80338837
NM_001110556.2(FLNA):c.3557C>T (p.Ser1186Leu) rs137853312
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.3668C>T (p.Pro1223Leu) rs1060500716
NM_001110556.2(FLNA):c.3814del (p.Arg1272fs) rs1557177636
NM_001110556.2(FLNA):c.3865G>T (p.Gly1289Ter) rs1557177623
NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg) rs797045044
NM_001110556.2(FLNA):c.4840_4852del (p.Gly1614fs) rs1557177086
NM_001110556.2(FLNA):c.5643del (p.Asn1881fs) rs1569551502
NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp) rs137853317
NM_001110556.2(FLNA):c.5879dup (p.Met1960fs)
NM_001110556.2(FLNA):c.5988_5989del (p.Cys1997fs) rs1060500718
NM_001110556.2(FLNA):c.607G>T (p.Asp203Tyr) rs137853314
NM_001110556.2(FLNA):c.620C>T (p.Pro207Leu) rs28935469
NM_001110556.2(FLNA):c.629G>T (p.Cys210Phe) rs137853318
NM_001110556.2(FLNA):c.676C>T (p.Arg226Ter) rs1569551861
NM_001110556.2(FLNA):c.760G>A (p.Glu254Lys) rs28935470
NM_001110556.2(FLNA):c.999_1008dup (p.Asp337delinsArgGlnTer) rs1557179357

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