ClinVar Miner

List of variants in gene FLNA studied for Connective tissue disorder

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu) rs17091204 0.04081
NM_001110556.2(FLNA):c.1176G>A (p.Glu392=) rs201173693 0.00446
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu) rs187029309 0.00227
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=) rs200660642 0.00140
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356 0.00081
NM_001110556.2(FLNA):c.3805+16G>A rs201016252 0.00080
NM_001110556.2(FLNA):c.1191C>T (p.Ile397=) rs200048692 0.00071
NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser) rs56102764 0.00069
NM_001110556.2(FLNA):c.3876C>T (p.His1292=) rs199917719 0.00060
NM_001110556.2(FLNA):c.1579C>T (p.Arg527Cys) rs202029322 0.00046
NM_001110556.2(FLNA):c.7267C>T (p.Pro2423Ser) rs200198847 0.00046
NM_001110556.2(FLNA):c.1691+7C>A rs199565118 0.00031
NM_001110556.2(FLNA):c.5589C>T (p.Val1863=) rs200787122 0.00030
NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser) rs200053635 0.00029
NM_001110556.2(FLNA):c.3421G>A (p.Ala1141Thr) rs201908251 0.00025
NM_001110556.2(FLNA):c.237G>C (p.Ala79=) rs200626788 0.00023
NM_001110556.2(FLNA):c.3522C>T (p.Thr1174=) rs373625856 0.00013
NM_001110556.2(FLNA):c.1828+3A>G rs368041880 0.00011
NM_001110556.2(FLNA):c.7221C>T (p.Asn2407=) rs782129907 0.00010
NM_001110556.2(FLNA):c.2313G>A (p.Lys771=) rs782741007 0.00008
NM_001110556.2(FLNA):c.3094C>T (p.Arg1032Cys) rs782546714 0.00006
NM_001110556.2(FLNA):c.5124C>T (p.Phe1708=) rs368399445 0.00006
NM_001110556.2(FLNA):c.6936C>T (p.Asn2312=) rs201203814 0.00006
NM_001110556.2(FLNA):c.3678C>T (p.Pro1226=) rs377579695 0.00005
NM_001110556.2(FLNA):c.4263C>T (p.Thr1421=) rs398123618 0.00005
NM_001110556.2(FLNA):c.4594C>T (p.Arg1532Trp) rs782563345 0.00003
NM_001110556.2(FLNA):c.6380-17G>A rs200764111 0.00003
NM_001110556.2(FLNA):c.6466G>A (p.Val2156Ile) rs367655833 0.00003
NM_001110556.2(FLNA):c.1487G>A (p.Arg496Gln) rs782539251 0.00002
NM_001110556.2(FLNA):c.1138G>A (p.Asp380Asn) rs782090266 0.00001
NM_001110556.2(FLNA):c.1200G>T (p.Lys400Asn) rs781879374 0.00001
NM_001110556.2(FLNA):c.3925G>A (p.Val1309Ile) rs782412141 0.00001
NM_001110556.2(FLNA):c.4843C>T (p.Arg1615Cys) rs1557177091 0.00001
NM_001110556.2(FLNA):c.1066-15C>A rs1557179297
NM_001110556.2(FLNA):c.129G>A (p.Lys43=) rs1569551929
NM_001110556.2(FLNA):c.3207+13T>C rs1557177989
NM_001110556.2(FLNA):c.3991G>A (p.Val1331Met) rs1569551635
NM_001110556.2(FLNA):c.4737G>C (p.Leu1579=) rs201904661
NM_001110556.2(FLNA):c.5275C>T (p.Pro1759Ser) rs1382076574
NM_001110556.2(FLNA):c.62_64dup (p.Val21dup) rs782721874

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