ClinVar Miner

List of variants in gene FLNA studied for congenital tricuspid malformation

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 78
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu) rs17091204 0.04081
NM_001110556.2(FLNA):c.7553-18A>G rs112682871 0.01979
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met) rs36051194 0.01499
NM_001110556.2(FLNA):c.3690C>T (p.Thr1230=) rs35015603 0.00732
NM_001110556.2(FLNA):c.1176G>A (p.Glu392=) rs201173693 0.00446
NM_001110556.2(FLNA):c.882A>G (p.Thr294=) rs184864998 0.00373
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu) rs187029309 0.00227
NM_001110556.2(FLNA):c.7267C>T (p.Pro2423Ser) rs200198847 0.00046
NM_001110556.2(FLNA):c.3207+14G>A rs200710010 0.00041
NM_001110556.2(FLNA):c.3421G>A (p.Ala1141Thr) rs201908251 0.00025
NM_001110556.2(FLNA):c.2516C>T (p.Thr839Met) rs201603843 0.00022
NM_001110556.2(FLNA):c.6350A>G (p.Asn2117Ser) rs375205247 0.00013
NM_001110556.2(FLNA):c.4908C>T (p.Ala1636=) rs367979917 0.00009
NM_001110556.2(FLNA):c.1581C>T (p.Arg527=) rs782684339 0.00008
NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp) rs192609440 0.00007
NM_001110556.2(FLNA):c.2364G>A (p.Glu788=) rs1448428046 0.00006
NM_001110556.2(FLNA):c.1019G>A (p.Arg340His) rs371368679 0.00003
NM_001110556.2(FLNA):c.4517C>T (p.Thr1506Ile) rs797045579 0.00003
NM_001110556.2(FLNA):c.4625C>T (p.Thr1542Ile) rs782281134 0.00003
NM_001110556.2(FLNA):c.6863G>A (p.Arg2288His) rs782275601 0.00003
NM_001110556.2(FLNA):c.1060C>T (p.His354Tyr) rs1489530369 0.00002
NM_001110556.2(FLNA):c.2392G>A (p.Glu798Lys) rs782454177 0.00002
NM_001110556.2(FLNA):c.2974A>G (p.Thr992Ala) rs782445995 0.00002
NM_001110556.2(FLNA):c.3691G>A (p.Val1231Ile) rs1191721014 0.00002
NM_001110556.2(FLNA):c.461T>C (p.Met154Thr) rs782240483 0.00002
NM_001110556.2(FLNA):c.5283C>T (p.Tyr1761=) rs782313331 0.00002
NM_001110556.2(FLNA):c.6376C>T (p.Pro2126Ser) rs782400832 0.00002
NM_001110556.2(FLNA):c.1270A>G (p.Met424Val) rs782066542 0.00001
NM_001110556.2(FLNA):c.1349T>C (p.Met450Thr) rs1360400826 0.00001
NM_001110556.2(FLNA):c.1823C>T (p.Thr608Met) rs1603362434 0.00001
NM_001110556.2(FLNA):c.1910C>T (p.Pro637Leu) rs267606815 0.00001
NM_001110556.2(FLNA):c.2254G>A (p.Val752Ile) rs1297013254 0.00001
NM_001110556.2(FLNA):c.2316C>A (p.Val772=) rs2067723075 0.00001
NM_001110556.2(FLNA):c.2410G>A (p.Val804Ile) rs374130804 0.00001
NM_001110556.2(FLNA):c.2467G>A (p.Asp823Asn) rs1557178278 0.00001
NM_001110556.2(FLNA):c.2590G>T (p.Val864Phe) rs1557178198 0.00001
NM_001110556.2(FLNA):c.2981A>G (p.Lys994Arg) rs3819330 0.00001
NM_001110556.2(FLNA):c.3323G>A (p.Cys1108Tyr) rs371677498 0.00001
NM_001110556.2(FLNA):c.3886C>T (p.Arg1296Cys) rs781816229 0.00001
NM_001110556.2(FLNA):c.4474+3G>T rs1286863443 0.00001
NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg) rs797045044 0.00001
NM_001110556.2(FLNA):c.546G>C (p.Gln182His) rs1557179648 0.00001
NM_001110556.2(FLNA):c.569G>A (p.Arg190Gln) rs782447567 0.00001
NM_001110556.2(FLNA):c.6719A>G (p.Lys2240Arg) rs797045581 0.00001
NM_001110556.2(FLNA):c.6725G>A (p.Arg2242Gln) rs781984274 0.00001
NM_001110556.2(FLNA):c.1204A>G (p.Thr402Ala) rs1569551838
NM_001110556.2(FLNA):c.1571G>A (p.Gly524Glu) rs1557178957
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.2464A>G (p.Ile822Val) rs2148114467
NM_001110556.2(FLNA):c.2792A>T (p.Asn931Ile) rs1557178134
NM_001110556.2(FLNA):c.3387C>T (p.Thr1129=) rs372874251
NM_001110556.2(FLNA):c.3637G>A (p.Gly1213Ser)
NM_001110556.2(FLNA):c.3670C>T (p.Leu1224Phe) rs1557177690
NM_001110556.2(FLNA):c.3758T>A (p.Val1253Glu)
NM_001110556.2(FLNA):c.382G>A (p.Ala128Thr)
NM_001110556.2(FLNA):c.3965C>T (p.Thr1322Met)
NM_001110556.2(FLNA):c.4265A>G (p.Tyr1422Cys) rs2067685860
NM_001110556.2(FLNA):c.4314C>G (p.Phe1438Leu) rs1557177412
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.4730A>G (p.Glu1577Gly) rs2148110326
NM_001110556.2(FLNA):c.4750_4755+18del rs2067676994
NM_001110556.2(FLNA):c.477G>C (p.Glu159Asp) rs2067775793
NM_001110556.2(FLNA):c.494A>G (p.Lys165Arg) rs1569551874
NM_001110556.2(FLNA):c.5021T>C (p.Val1674Ala) rs781946233
NM_001110556.2(FLNA):c.5406C>T (p.Gly1802=)
NM_001110556.2(FLNA):c.5861-4C>G
NM_001110556.2(FLNA):c.622+5G>C rs2067774568
NM_001110556.2(FLNA):c.6667G>T (p.Gly2223Trp) rs2148103926
NM_001110556.2(FLNA):c.7326T>C (p.Gly2442=) rs1026564714
NM_001110556.2(FLNA):c.862G>A (p.Gly288Arg) rs267606816

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.