ClinVar Miner

List of variants reported as likely benign for Birt-Hogg-Dube syndrome 1

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ClinVar version:
Total variants: 173
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HGVS dbSNP gnomAD frequency
NM_144997.7(FLCN):c.1414C>G (p.Pro472Ala) rs151312899 0.00080
NM_144997.7(FLCN):c.1155G>T (p.Gln385His) rs141250189 0.00038
NM_144997.7(FLCN):c.1201C>T (p.Arg401Cys) rs143183215 0.00034
NM_144997.7(FLCN):c.931C>T (p.Pro311Ser) rs140246224 0.00029
NM_144997.7(FLCN):c.268G>T (p.Ala90Ser) rs141140415 0.00026
NM_144997.7(FLCN):c.592G>A (p.Asp198Asn) rs200168437 0.00019
NM_144997.7(FLCN):c.396+4A>G rs370353839 0.00018
NM_144997.7(FLCN):c.113G>T (p.Ser38Ile) rs139418842 0.00016
NM_144997.7(FLCN):c.1364A>G (p.Glu455Gly) rs199786696 0.00015
NM_144997.7(FLCN):c.1463C>T (p.Ala488Val) rs200660337 0.00014
NM_144997.7(FLCN):c.977C>T (p.Pro326Leu) rs138031155 0.00012
NM_144997.7(FLCN):c.-8A>G rs369632481 0.00009
NM_144997.7(FLCN):c.1432+8C>T rs201898226 0.00009
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.1274A>G (p.Gln425Arg) rs786203348 0.00006
NM_144997.7(FLCN):c.1283C>T (p.Pro428Leu) rs199889477 0.00006
NM_144997.7(FLCN):c.1265C>T (p.Pro422Leu) rs565447853 0.00005
NM_144997.7(FLCN):c.1387T>C (p.Tyr463His) rs770077517 0.00005
NM_144997.7(FLCN):c.346C>A (p.Gln116Lys) rs398124536 0.00005
NM_144997.7(FLCN):c.86T>C (p.Leu29Pro) rs150051278 0.00005
NM_144997.7(FLCN):c.992C>T (p.Ser331Phe) rs202215080 0.00005
NM_144997.7(FLCN):c.1216A>G (p.Ser406Gly) rs528541881 0.00004
NM_144997.7(FLCN):c.1418T>C (p.Val473Ala) rs144883828 0.00004
NM_144997.7(FLCN):c.1428C>G (p.Asp476Glu) rs756944795 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.716G>A (p.Arg239His) rs753948488 0.00004
NM_144997.7(FLCN):c.-12C>T rs779391001 0.00003
NM_144997.7(FLCN):c.1189G>A (p.Val397Met) rs752006809 0.00003
NM_144997.7(FLCN):c.1198G>A (p.Val400Ile) rs148257120 0.00003
NM_144997.7(FLCN):c.1430G>A (p.Arg477Gln) rs748878853 0.00003
NM_144997.7(FLCN):c.1580G>A (p.Arg527Gln) rs777826268 0.00003
NM_144997.7(FLCN):c.1637A>G (p.Asn546Ser) rs775149348 0.00003
NM_144997.7(FLCN):c.634C>A (p.Gln212Lys) rs558699420 0.00003
NM_144997.7(FLCN):c.952G>A (p.Glu318Lys) rs756787389 0.00003
NM_144997.7(FLCN):c.955G>C (p.Gly319Arg) rs753491072 0.00003
NM_144997.7(FLCN):c.1021C>T (p.Arg341Trp) rs770396757 0.00002
NM_144997.7(FLCN):c.1049G>A (p.Arg350Gln) rs190786280 0.00002
NM_144997.7(FLCN):c.1133G>A (p.Ser378Asn) rs769489773 0.00002
NM_144997.7(FLCN):c.1432+7G>T rs1200932753 0.00002
NM_144997.7(FLCN):c.1559A>G (p.Lys520Arg) rs142288285 0.00002
NM_144997.7(FLCN):c.208G>A (p.Glu70Lys) rs554247745 0.00002
NM_144997.7(FLCN):c.249+2C>T rs939223011 0.00002
NM_144997.7(FLCN):c.249+4A>G rs753648691 0.00002
NM_144997.7(FLCN):c.43G>A (p.Gly15Ser) rs539468848 0.00002
NM_144997.7(FLCN):c.83C>G (p.Pro28Arg) rs780588085 0.00002
NM_144997.7(FLCN):c.872-4G>A rs752727873 0.00002
NM_144997.7(FLCN):c.1022G>A (p.Arg341Gln) rs375352888 0.00001
NM_144997.7(FLCN):c.1063-6G>A rs1060504592 0.00001
NM_144997.7(FLCN):c.1176+8C>T rs1033129279 0.00001
NM_144997.7(FLCN):c.1176+9A>G rs1210541380 0.00001
NM_144997.7(FLCN):c.1193G>C (p.Gly398Ala) rs766801011 0.00001
NM_144997.7(FLCN):c.1199T>C (p.Val400Ala) rs760079073 0.00001
NM_144997.7(FLCN):c.1267C>T (p.His423Tyr) rs765628527 0.00001
NM_144997.7(FLCN):c.1363G>A (p.Glu455Lys) rs759637055 0.00001
NM_144997.7(FLCN):c.1432+4G>C rs373547953 0.00001
NM_144997.7(FLCN):c.1432+9C>T rs751683346 0.00001
NM_144997.7(FLCN):c.1433-11C>T rs1440866701 0.00001
NM_144997.7(FLCN):c.1433-12C>T rs772808150 0.00001
NM_144997.7(FLCN):c.1433-13C>T rs200771620 0.00001
NM_144997.7(FLCN):c.1433-20G>A rs1364704962 0.00001
NM_144997.7(FLCN):c.1538+8A>G rs1471623826 0.00001
NM_144997.7(FLCN):c.1539-11G>C rs368472222 0.00001
NM_144997.7(FLCN):c.1539-16T>G rs553673947 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.175C>T (p.Arg59Cys) rs778275358 0.00001
NM_144997.7(FLCN):c.179C>T (p.Ala60Val) rs779900587 0.00001
NM_144997.7(FLCN):c.190G>A (p.Ala64Thr) rs778587763 0.00001
NM_144997.7(FLCN):c.250-4A>G rs777642771 0.00001
NM_144997.7(FLCN):c.278C>T (p.Pro93Leu) rs766548696 0.00001
NM_144997.7(FLCN):c.342C>A (p.His114Gln) rs1448942524 0.00001
NM_144997.7(FLCN):c.396+6C>T rs747922795 0.00001
NM_144997.7(FLCN):c.397-17C>T rs1000136543 0.00001
NM_144997.7(FLCN):c.535C>T (p.Arg179Trp) rs774358971 0.00001
NM_144997.7(FLCN):c.562T>A (p.Phe188Ile) rs1407566775 0.00001
NM_144997.7(FLCN):c.603G>T (p.Gln201His) rs759405317 0.00001
NM_144997.7(FLCN):c.618+3G>A rs773197802 0.00001
NM_144997.7(FLCN):c.619-8C>T rs1274815686 0.00001
NM_144997.7(FLCN):c.690A>C (p.Leu230=) rs373977390 0.00001
NM_144997.7(FLCN):c.703G>A (p.Gly235Ser) rs200693409 0.00001
NM_144997.7(FLCN):c.729G>A (p.Ser243=) rs377261933 0.00001
NM_144997.7(FLCN):c.779+8G>T rs1260972155 0.00001
NM_144997.7(FLCN):c.780-13C>T rs777670469 0.00001
NM_144997.7(FLCN):c.791C>T (p.Ala264Val) rs372304384 0.00001
NM_144997.7(FLCN):c.958C>T (p.Arg320Trp) rs777456756 0.00001
NM_144997.7(FLCN):c.997T>C (p.Ser333Pro) rs1470514558 0.00001
NM_144997.7(FLCN):c.1062+4G>A
NM_144997.7(FLCN):c.1062+8G>A rs1317761101
NM_144997.7(FLCN):c.1063-13C>T
NM_144997.7(FLCN):c.1063-16G>A rs942279223
NM_144997.7(FLCN):c.1063-16G>C
NM_144997.7(FLCN):c.1063-20C>T
NM_144997.7(FLCN):c.1063-9C>T rs750271662
NM_144997.7(FLCN):c.1085G>T (p.Arg362Leu) rs559055296
NM_144997.7(FLCN):c.1177-11G>A rs2144860631
NM_144997.7(FLCN):c.1177-12T>C rs1341314313
NM_144997.7(FLCN):c.1177-13C>T
NM_144997.7(FLCN):c.1177-14G>C rs2144860746
NM_144997.7(FLCN):c.1177-19G>C
NM_144997.7(FLCN):c.1177-6C>T
NM_144997.7(FLCN):c.1177-8C>T
NM_144997.7(FLCN):c.1177-9C>T rs1223867814
NM_144997.7(FLCN):c.1202G>A (p.Arg401His) rs771653740
NM_144997.7(FLCN):c.1280C>A (p.Pro427His) rs766218250
NM_144997.7(FLCN):c.1283C>A (p.Pro428His) rs199889477
NM_144997.7(FLCN):c.1283C>G (p.Pro428Arg) rs199889477
NM_144997.7(FLCN):c.1285C>T (p.His429Tyr) rs375082054
NM_144997.7(FLCN):c.1300+10C>A rs779288100
NM_144997.7(FLCN):c.1300+10C>T rs779288100
NM_144997.7(FLCN):c.1300+8C>G
NM_144997.7(FLCN):c.1300+8C>T rs936407961
NM_144997.7(FLCN):c.1300+8_1300+12delinsACCCT
NM_144997.7(FLCN):c.1300+9C>G rs1197783802
NM_144997.7(FLCN):c.1300+9C>T rs1197783802
NM_144997.7(FLCN):c.1301-12G>A rs2544149611
NM_144997.7(FLCN):c.1301-13T>C rs2544149641
NM_144997.7(FLCN):c.1301-17del rs2144841050
NM_144997.7(FLCN):c.1301-18G>C rs186967236
NM_144997.7(FLCN):c.1301-7G>T
NM_144997.7(FLCN):c.134C>T (p.Ala45Val) rs556510460
NM_144997.7(FLCN):c.1350C>A (p.His450Gln) rs753685944
NM_144997.7(FLCN):c.1428C>A (p.Asp476Glu) rs756944795
NM_144997.7(FLCN):c.1432+10C>A rs1216451293
NM_144997.7(FLCN):c.1432+10C>T
NM_144997.7(FLCN):c.1432+7G>A rs1200932753
NM_144997.7(FLCN):c.1432+8C>G
NM_144997.7(FLCN):c.1433-14G>T rs2144834455
NM_144997.7(FLCN):c.1433-16C>T
NM_144997.7(FLCN):c.1433-17C>T
NM_144997.7(FLCN):c.1433-20_1433-10del rs1380029891
NM_144997.7(FLCN):c.1433-5C>T rs781046590
NM_144997.7(FLCN):c.1515C>T (p.Val505=) rs1388452217
NM_144997.7(FLCN):c.1538+9C>T
NM_144997.7(FLCN):c.1539-11G>A
NM_144997.7(FLCN):c.1539-19T>C rs772021650
NM_144997.7(FLCN):c.1685A>G (p.Lys562Arg) rs749359334
NM_144997.7(FLCN):c.170G>A (p.Arg57Gln) rs749770193
NM_144997.7(FLCN):c.176G>T (p.Arg59Leu) rs374969279
NM_144997.7(FLCN):c.194A>C (p.Glu65Ala) rs757012294
NM_144997.7(FLCN):c.249+10T>C rs2145037854
NM_144997.7(FLCN):c.249+9C>T
NM_144997.7(FLCN):c.250-12T>C rs2544284784
NM_144997.7(FLCN):c.250-15C>T rs2544284856
NM_144997.7(FLCN):c.250-16T>C
NM_144997.7(FLCN):c.250-17T>C rs2544284881
NM_144997.7(FLCN):c.250-7T>C rs748857550
NM_144997.7(FLCN):c.396+8T>G
NM_144997.7(FLCN):c.397-12G>A rs199958635
NM_144997.7(FLCN):c.397-14_397-10delinsTGGTA
NM_144997.7(FLCN):c.397-16_397-12delinsTCCGT
NM_144997.7(FLCN):c.397-17_397-14delinsTGCT
NM_144997.7(FLCN):c.397-4C>T
NM_144997.7(FLCN):c.618+7T>A rs2047169946
NM_144997.7(FLCN):c.618+7T>G
NM_144997.7(FLCN):c.619-14C>T
NM_144997.7(FLCN):c.619-4del rs775559365
NM_144997.7(FLCN):c.619-7A>G rs2144952545
NM_144997.7(FLCN):c.779+8G>A rs1260972155
NM_144997.7(FLCN):c.779+8G>C rs1260972155
NM_144997.7(FLCN):c.780-10T>C
NM_144997.7(FLCN):c.780-14G>A rs749287616
NM_144997.7(FLCN):c.780-14G>C rs749287616
NM_144997.7(FLCN):c.780-16G>T rs2144935009
NM_144997.7(FLCN):c.871+6G>T
NM_144997.7(FLCN):c.871+7C>A
NM_144997.7(FLCN):c.871+8del rs2144930688
NM_144997.7(FLCN):c.872-14_872-13inv
NM_144997.7(FLCN):c.872-16G>T
NM_144997.7(FLCN):c.872-19C>T
NM_144997.7(FLCN):c.872-7C>T
NM_144997.7(FLCN):c.955G>A (p.Gly319Arg) rs753491072

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