ClinVar Miner

List of variants in gene FLCN reported by Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital

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Gene type:
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Total variants: 130
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HGVS dbSNP gnomAD frequency
NM_144997.7(FLCN):c.397-13G>A rs3744123 0.07012
NM_144997.7(FLCN):c.1233G>A (p.Glu411=) rs61750032 0.03557
NM_144997.7(FLCN):c.726A>T (p.Thr242=) rs113938514 0.02907
NM_144997.7(FLCN):c.780-33G>A rs114077642 0.02254
NM_144997.7(FLCN):c.872-13A>G rs114970273 0.01651
NM_144997.7(FLCN):c.1176+30C>T rs75593733 0.01643
NM_144997.7(FLCN):c.1176+31G>A rs41340844 0.01448
NM_144997.7(FLCN):c.1538+14T>G rs112111994 0.00721
NM_144997.7(FLCN):c.*17G>T rs115885284 0.00549
NM_144997.7(FLCN):c.1177-21G>A rs150687840 0.00276
NM_144997.7(FLCN):c.779+50G>T rs112496006 0.00242
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr) rs41419545 0.00217
NM_144997.7(FLCN):c.618+23G>A rs201373940 0.00162
NM_144997.7(FLCN):c.959G>A (p.Arg320Gln) rs143483053 0.00071
NM_144997.7(FLCN):c.871+47G>A rs142934950 0.00058
NM_144997.7(FLCN):c.1269C>T (p.His423=) rs41464156 0.00053
NM_144997.7(FLCN):c.397-21G>C rs149414632 0.00038
NM_144997.7(FLCN):c.619-20C>T rs202217257 0.00037
NM_144997.7(FLCN):c.268G>T (p.Ala90Ser) rs141140415 0.00029
NM_144997.7(FLCN):c.1149C>T (p.Leu383=) rs150752548 0.00028
NM_144997.7(FLCN):c.715C>T (p.Arg239Cys) rs78683075 0.00024
NM_144997.7(FLCN):c.246C>T (p.Cys82=) rs150712346 0.00020
NM_144997.7(FLCN):c.396+4A>G rs370353839 0.00020
NM_144997.7(FLCN):c.592G>A (p.Asp198Asn) rs200168437 0.00019
NM_144997.7(FLCN):c.1300+48C>G rs565858485 0.00018
NM_144997.7(FLCN):c.1523A>G (p.Lys508Arg) rs199643834 0.00018
NM_144997.7(FLCN):c.580C>T (p.Arg194Trp) rs138070947 0.00017
NM_144997.7(FLCN):c.1062+7G>A rs540198776 0.00016
NM_144997.7(FLCN):c.1278C>T (p.Ile426=) rs41459448 0.00016
NM_144997.7(FLCN):c.1281C>G (p.Pro427=) rs372207262 0.00014
NM_144997.7(FLCN):c.1463C>T (p.Ala488Val) rs200660337 0.00014
NM_144997.7(FLCN):c.1539-6C>T rs779028759 0.00009
NM_144997.7(FLCN):c.687C>T (p.Phe229=) rs754710935 0.00008
NM_144997.7(FLCN):c.552C>A (p.Asn184Lys) rs143525924 0.00007
NM_144997.7(FLCN):c.802C>T (p.Arg268Trp) rs762370059 0.00007
NM_144997.7(FLCN):c.1283C>T (p.Pro428Leu) rs199889477 0.00006
NM_144997.7(FLCN):c.1300+14C>T rs200823760 0.00005
NM_144997.7(FLCN):c.1692C>T (p.His564=) rs201810397 0.00005
NM_144997.7(FLCN):c.346C>A (p.Gln116Lys) rs398124536 0.00005
NM_144997.7(FLCN):c.1300+12C>T rs565983064 0.00004
NM_144997.7(FLCN):c.1513G>A (p.Val505Ile) rs376715412 0.00004
NM_144997.7(FLCN):c.65C>T (p.Thr22Met) rs768734584 0.00004
NM_144997.7(FLCN):c.-12C>T rs779391001 0.00003
NM_144997.7(FLCN):c.12C>T (p.Ile4=) rs752123350 0.00003
NM_144997.7(FLCN):c.1433-36C>T rs564294188 0.00003
NM_144997.7(FLCN):c.1637A>G (p.Asn546Ser) rs775149348 0.00003
NM_144997.7(FLCN):c.429C>T (p.Phe143=) rs773792624 0.00003
NM_144997.7(FLCN):c.1049G>A (p.Arg350Gln) rs190786280 0.00002
NM_144997.7(FLCN):c.1084C>T (p.Arg362Cys) rs557336321 0.00002
NM_144997.7(FLCN):c.1101C>T (p.His367=) rs1451481907 0.00002
NM_144997.7(FLCN):c.1174C>T (p.Arg392Trp) rs1060502374 0.00002
NM_144997.7(FLCN):c.703G>A (p.Gly235Ser) rs200693409 0.00002
NM_144997.7(FLCN):c.1059G>A (p.Arg353=) rs751513488 0.00001
NM_144997.7(FLCN):c.1227C>T (p.Tyr409=) rs561236067 0.00001
NM_144997.7(FLCN):c.1266G>A (p.Pro422=) rs751013842 0.00001
NM_144997.7(FLCN):c.1599G>C (p.Gln533His) rs190965235 0.00001
NM_144997.7(FLCN):c.1635C>G (p.Asp545Glu) rs760329266 0.00001
NM_144997.7(FLCN):c.169C>T (p.Arg57Trp) rs746507528 0.00001
NM_144997.7(FLCN):c.1700C>T (p.Ser567Phe) rs1466102804 0.00001
NM_144997.7(FLCN):c.237G>A (p.Ser79=) rs771650940 0.00001
NM_144997.7(FLCN):c.410G>A (p.Arg137His) rs1289872207 0.00001
NM_144997.7(FLCN):c.42C>T (p.His14=) rs766288960 0.00001
NM_144997.7(FLCN):c.535C>T (p.Arg179Trp) rs774358971 0.00001
NM_144997.7(FLCN):c.603G>T (p.Gln201His) rs759405317 0.00001
NM_144997.7(FLCN):c.680C>T (p.Thr227Met) rs747675386 0.00001
NM_144997.7(FLCN):c.779+1G>T rs758175953 0.00001
NM_144997.7(FLCN):c.871+35C>T rs370794931 0.00001
NM_144997.7(FLCN):c.*2C>T
NM_144997.7(FLCN):c.-8A>G
NM_144997.7(FLCN):c.1011C>T (p.Ser337=) rs1567812706
NM_144997.7(FLCN):c.1033G>C (p.Val345Leu) rs2144893824
NM_144997.7(FLCN):c.1062+21G>A
NM_144997.7(FLCN):c.1062+2T>G rs886039370
NM_144997.7(FLCN):c.1062+46A>C
NM_144997.7(FLCN):c.1071T>C (p.Gly357=)
NM_144997.7(FLCN):c.1093_1113del (p.Ala365_Gly371del) rs2144870247
NM_144997.7(FLCN):c.1097G>A (p.Trp366Ter) rs2144870598
NM_144997.7(FLCN):c.1098G>A (p.Trp366Ter) rs879255672
NM_144997.7(FLCN):c.1177-10T>C
NM_144997.7(FLCN):c.1251C>T (p.Phe417=) rs980174552
NM_144997.7(FLCN):c.1285del (p.His429fs) rs80338682
NM_144997.7(FLCN):c.1285dup (p.His429fs) rs80338682
NM_144997.7(FLCN):c.1301-38G>T
NM_144997.7(FLCN):c.1301-40A>G
NM_144997.7(FLCN):c.1350C>A (p.His450Gln)
NM_144997.7(FLCN):c.1432+23T>A
NM_144997.7(FLCN):c.1432+30T>C
NM_144997.7(FLCN):c.1432+42C>T
NM_144997.7(FLCN):c.1432+47G>A
NM_144997.7(FLCN):c.1434G>A (p.Val478=) rs1131690834
NM_144997.7(FLCN):c.1538+40del
NM_144997.7(FLCN):c.1539-27dup
NM_144997.7(FLCN):c.154A>G (p.Ile52Val) rs2047308054
NM_144997.7(FLCN):c.158del (p.Gln53fs) rs1131690825
NM_144997.7(FLCN):c.1637del (p.Asn546fs)
NM_144997.7(FLCN):c.1683C>G (p.Tyr561Ter)
NM_144997.7(FLCN):c.1703C>T (p.Thr568Met) rs781733528
NM_144997.7(FLCN):c.1708C>T (p.Arg570Cys) rs752161850
NM_144997.7(FLCN):c.180G>C (p.Ala60=) rs1203041436
NM_144997.7(FLCN):c.187C>G (p.Pro63Ala) rs2047305711
NM_144997.7(FLCN):c.199dup (p.Ala67fs)
NM_144997.7(FLCN):c.235_238del (p.Ser79fs) rs750146811
NM_144997.7(FLCN):c.249+14G>C
NM_144997.7(FLCN):c.249+16G>T rs372318505
NM_144997.7(FLCN):c.250-47C>T
NM_144997.7(FLCN):c.333C>T (p.His111=) rs1555610924
NM_144997.7(FLCN):c.372C>G (p.Ala124=) rs2145010585
NM_144997.7(FLCN):c.396+1G>A rs2145009900
NM_144997.7(FLCN):c.397-16G>A rs201100388
NM_144997.7(FLCN):c.424TTC[1] (p.Phe143del) rs764153620
NM_144997.7(FLCN):c.457A>G (p.Ser153Gly) rs1479341645
NM_144997.7(FLCN):c.52A>G (p.Thr18Ala) rs761993256
NM_144997.7(FLCN):c.57_58del (p.Phe20fs) rs2145049426
NM_144997.7(FLCN):c.603G>C (p.Gln201His)
NM_144997.7(FLCN):c.618+28G>A
NM_144997.7(FLCN):c.618+29G>A
NM_144997.7(FLCN):c.618+35G>C
NM_144997.7(FLCN):c.618+36G>A
NM_144997.7(FLCN):c.624dup (p.Glu209Ter) rs2144952338
NM_144997.7(FLCN):c.659A>T (p.Gln220Leu) rs2047129363
NM_144997.7(FLCN):c.735A>G (p.Thr245=) rs150175875
NM_144997.7(FLCN):c.756G>A (p.Ala252=) rs746664975
NM_144997.7(FLCN):c.75G>A (p.Leu25=) rs200350612
NM_144997.7(FLCN):c.779+46_779+47del
NM_144997.7(FLCN):c.779+50G>A
NM_144997.7(FLCN):c.871+22C>T
NM_144997.7(FLCN):c.871+32G>A
NM_144997.7(FLCN):c.871+34C>T rs1007272111
NM_144997.7(FLCN):c.871+44G>T rs757688846
NM_144997.7(FLCN):c.942A>G (p.Pro314=)

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