ClinVar Miner

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

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001110556.2(FLNA):c.1065+1G>T rs2067762985
NM_001110556.2(FLNA):c.1066-1G>A rs2148118126
NM_001110556.2(FLNA):c.2405-1G>C
NM_001110556.2(FLNA):c.280A>G (p.Asn94Asp)
NM_001110556.2(FLNA):c.2827-2A>C rs2067713488
NM_001110556.2(FLNA):c.310C>G (p.Leu104Val)
NM_001110556.2(FLNA):c.3596C>T (p.Ser1199Leu) rs28935473
NM_001110556.2(FLNA):c.374-2A>G
NM_001110556.2(FLNA):c.3805+1G>A
NM_001110556.2(FLNA):c.3805+2T>C
NM_001110556.2(FLNA):c.4142+1G>A rs1603360906
NM_001110556.2(FLNA):c.4143-1G>T rs1557177485
NM_001110556.2(FLNA):c.418C>T (p.Leu140Phe) rs2148119483
NM_001110556.2(FLNA):c.4596_4598+5del rs1557177279
NM_001110556.2(FLNA):c.4598+1G>A
NM_001110556.2(FLNA):c.5183G>T (p.Gly1728Val) rs2148107380
NM_001110556.2(FLNA):c.5417-2A>G
NM_001110556.2(FLNA):c.5686+1G>C rs1557176315
NM_001110556.2(FLNA):c.622+1G>A rs2148119316
NM_001110556.2(FLNA):c.6425_6428del (p.Glu2142fs) rs2148104376
NM_001110556.2(FLNA):c.6503-2A>C rs112363874
NM_001110556.2(FLNA):c.7023+1G>T rs2148102980
NM_001110556.2(FLNA):c.7333+1G>C rs1557175424
NM_001110556.2(FLNA):c.733G>A (p.Glu245Lys) rs797044753
NM_001110556.2(FLNA):c.868+1G>A

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