ClinVar Miner

List of variants in gene FLNA studied for Cardiac valvular dysplasia, X-linked

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_001110556.2(FLNA):c.3691G>A (p.Val1231Ile) rs1191721014 0.00002
NM_001110556.2(FLNA):c.6728C>G (p.Ala2243Gly) rs953454766 0.00002
NM_001110556.2(FLNA):c.677G>A (p.Arg226Gln) rs2067772868 0.00002
NM_001110556.2(FLNA):c.1349T>C (p.Met450Thr) rs1360400826 0.00001
NM_001110556.2(FLNA):c.1910C>T (p.Pro637Leu) rs267606815 0.00001
NM_001110556.2(FLNA):c.2467G>A (p.Asp823Asn) rs1557178278 0.00001
NM_001110556.2(FLNA):c.3637G>A (p.Gly1213Ser) rs1557177704 0.00001
NM_001110556.2(FLNA):c.3886C>T (p.Arg1296Cys) rs781816229 0.00001
NM_001110556.2(FLNA):c.3965C>T (p.Thr1322Met) rs782382389 0.00001
NM_001110556.2(FLNA):c.461T>C (p.Met154Thr) rs782240483 0.00001
NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg) rs797045044 0.00001
NM_001110556.2(FLNA):c.1829-1G>C rs1603362402
NM_001110556.2(FLNA):c.1910C>A (p.Pro637Gln) rs267606815
NM_001110556.2(FLNA):c.1923C>T (p.Gly641=) rs80338841
NM_001110556.2(FLNA):c.1924G>T (p.Glu642Ter) rs782178831
NM_001110556.2(FLNA):c.2132T>A (p.Val711Asp) rs267606817
NM_001110556.2(FLNA):c.2228A>C (p.His743Pro) rs2148115732
NM_001110556.2(FLNA):c.2280+266_2827-25delinsTG
NM_001110556.2(FLNA):c.3758T>A (p.Val1253Glu) rs2522740367
NM_001110556.2(FLNA):c.382G>A (p.Ala128Thr) rs1603363301
NM_001110556.2(FLNA):c.4265A>G (p.Tyr1422Cys) rs2067685860
NM_001110556.2(FLNA):c.4403C>T (p.Pro1468Leu) rs2067683771
NM_001110556.2(FLNA):c.4525G>A (p.Val1509Ile) rs782018054
NM_001110556.2(FLNA):c.4660G>A (p.Gly1554Arg) rs1603360542
NM_001110556.2(FLNA):c.4750_4755+18del rs2067676994
NM_001110556.2(FLNA):c.5021T>C (p.Val1674Ala) rs781946233
NM_001110556.2(FLNA):c.546G>C (p.Gln182His) rs1557179648
NM_001110556.2(FLNA):c.5861-4C>G rs2522724299
NM_001110556.2(FLNA):c.622+5G>C rs2067774568
NM_001110556.2(FLNA):c.6667G>T (p.Gly2223Trp) rs2148103926
NM_001110556.2(FLNA):c.862G>A (p.Gly288Arg) rs267606816

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