List of variants in gene FLNA reported as pathogenic by Claritas Genomics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001110556.2(FLNA):c.3557C>T (p.Ser1186Leu)	rs137853312	0.00001
NM_001110556.2(FLNA):c.1430-1G>T	rs786205177
NM_001110556.2(FLNA):c.1829-2A>G	rs786205183
NM_001110556.2(FLNA):c.2565+1G>C	rs786205186
NM_001110556.2(FLNA):c.3596C>T (p.Ser1199Leu)	rs28935473
NM_001110556.2(FLNA):c.4446_4447dup (p.Leu1483fs)	rs398123620
NM_001110556.2(FLNA):c.544C>T (p.Gln182Ter)	rs137853310
NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp)	rs137853317
NM_001110556.2(FLNA):c.6355_6356del (p.Lys2119fs)	rs786205201
NM_001110556.2(FLNA):c.6635_6638del (p.Val2212fs)	rs786205178

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