List of variants in gene FLCN studied for Familial spontaneous pneumothorax; Nonpapillary renal cell carcinoma; Colorectal cancer; Birt-Hogg-Dube syndrome 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 101

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HGVS	dbSNP	gnomAD frequency
NM_144997.7(FLCN):c.-487G>C	rs1736209	0.72552
NM_144997.7(FLCN):c.-299C>T	rs1708629	0.44880
NM_144997.7(FLCN):c.872-13A>G	rs114970273	0.01538
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.716G>A (p.Arg239His)	rs753948488	0.00004
NM_144997.7(FLCN):c.1198G>A (p.Val400Ile)	rs148257120	0.00003
NM_144997.7(FLCN):c.1270G>A (p.Val424Met)	rs1264775833	0.00003
NM_144997.7(FLCN):c.1373A>G (p.Gln458Arg)	rs150439088	0.00003
NM_144997.7(FLCN):c.1432+3G>T	rs752730139	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.197G>A (p.Gly66Glu)	rs753787458	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.1084C>T (p.Arg362Cys)	rs557336321	0.00002
NM_144997.7(FLCN):c.1102G>A (p.Val368Ile)	rs767714543	0.00002
NM_144997.7(FLCN):c.1133G>A (p.Ser378Asn)	rs769489773	0.00002
NM_144997.7(FLCN):c.1240C>T (p.Arg414Trp)	rs1226407835	0.00002
NM_144997.7(FLCN):c.149G>A (p.Gly50Asp)	rs1166116743	0.00002
NM_144997.7(FLCN):c.1022G>A (p.Arg341Gln)	rs375352888	0.00001
NM_144997.7(FLCN):c.1087A>T (p.Met363Leu)	rs1313891453	0.00001
NM_144997.7(FLCN):c.1160C>T (p.Ala387Val)	rs1431737113	0.00001
NM_144997.7(FLCN):c.116C>G (p.Pro39Arg)	rs1197656765	0.00001
NM_144997.7(FLCN):c.1193G>C (p.Gly398Ala)	rs766801011	0.00001
NM_144997.7(FLCN):c.1288G>A (p.Val430Met)	rs911287169	0.00001
NM_144997.7(FLCN):c.1301A>G (p.Glu434Gly)	rs1286890611	0.00001
NM_144997.7(FLCN):c.1315G>A (p.Val439Met)	rs112980409	0.00001
NM_144997.7(FLCN):c.1432+13A>C	rs763241810	0.00001
NM_144997.7(FLCN):c.1539-16T>G	rs553673947	0.00001
NM_144997.7(FLCN):c.1579_1580insA (p.Arg527fs)	rs753009073	0.00001
NM_144997.7(FLCN):c.1702A>G (p.Thr568Ala)	rs748337450	0.00001
NM_144997.7(FLCN):c.1703C>T (p.Thr568Met)	rs781733528	0.00001
NM_144997.7(FLCN):c.1709G>A (p.Arg570His)	rs201056799	0.00001
NM_144997.7(FLCN):c.175C>T (p.Arg59Cys)	rs778275358	0.00001
NM_144997.7(FLCN):c.190G>A (p.Ala64Thr)	rs778587763	0.00001
NM_144997.7(FLCN):c.257G>A (p.Arg86Gln)	rs765550303	0.00001
NM_144997.7(FLCN):c.278C>T (p.Pro93Leu)	rs766548696	0.00001
NM_144997.7(FLCN):c.284A>G (p.Tyr95Cys)	rs1555610947	0.00001
NM_144997.7(FLCN):c.410G>A (p.Arg137His)	rs1289872207	0.00001
NM_144997.7(FLCN):c.501G>C (p.Gln167His)	rs772775816	0.00001
NM_144997.7(FLCN):c.611C>T (p.Ala204Val)	rs766401197	0.00001
NM_144997.7(FLCN):c.614T>C (p.Leu205Pro)	rs878855219	0.00001
NM_144997.7(FLCN):c.646C>G (p.Pro216Ala)	rs1274746260	0.00001
NM_144997.7(FLCN):c.703G>A (p.Gly235Ser)	rs200693409	0.00001
NM_144997.7(FLCN):c.734C>A (p.Thr245Lys)	rs371401039	0.00001
NM_144997.7(FLCN):c.908A>G (p.Glu303Gly)	rs773482946	0.00001
NM_144997.7(FLCN):c.99T>A (p.Asp33Glu)	rs375348725	0.00001
NM_144997.7(FLCN):c.*3C>T
NM_144997.7(FLCN):c.101G>A (p.Gly34Glu)	rs2047310469
NM_144997.7(FLCN):c.1085G>A (p.Arg362His)	rs559055296
NM_144997.7(FLCN):c.1085G>T (p.Arg362Leu)	rs559055296
NM_144997.7(FLCN):c.1180A>G (p.Met394Val)	rs1383235698
NM_144997.7(FLCN):c.1202G>A (p.Arg401His)	rs771653740
NM_144997.7(FLCN):c.1270G>T (p.Val424Leu)	rs1264775833
NM_144997.7(FLCN):c.1277T>C (p.Ile426Thr)	rs766990565
NM_144997.7(FLCN):c.1285del (p.His429fs)	rs80338682
NM_144997.7(FLCN):c.1285dup (p.His429fs)	rs80338682
NM_144997.7(FLCN):c.1294T>C (p.Ser432Pro)	rs1597583773
NM_144997.7(FLCN):c.1295C>T (p.Ser432Phe)	rs2544161000
NM_144997.7(FLCN):c.1356G>A (p.Val452=)	rs760690745
NM_144997.7(FLCN):c.1372dup (p.Gln458fs)
NM_144997.7(FLCN):c.1382G>A (p.Ser461Asn)	rs1397579538
NM_144997.7(FLCN):c.1396G>A (p.Val466Met)	rs2544145797
NM_144997.7(FLCN):c.1429C>T (p.Arg477Ter)	rs879255678
NM_144997.7(FLCN):c.1432+1G>A	rs755959303
NM_144997.7(FLCN):c.1432+5G>C	rs786203179
NM_144997.7(FLCN):c.1492G>C (p.Asp498His)	rs2544141394
NM_144997.7(FLCN):c.1542A>G (p.Lys514=)	rs2544126558
NM_144997.7(FLCN):c.1565C>A (p.Thr522Asn)	rs1597574324
NM_144997.7(FLCN):c.159G>T (p.Gln53His)	rs2145044175
NM_144997.7(FLCN):c.1601del (p.Lys534fs)	rs886039371
NM_144997.7(FLCN):c.1679C>T (p.Thr560Ile)	rs1597573772
NM_144997.7(FLCN):c.1694T>A (p.Leu565His)
NM_144997.7(FLCN):c.1706T>C (p.Val569Ala)	rs2144806585
NM_144997.7(FLCN):c.176G>T (p.Arg59Leu)	rs374969279
NM_144997.7(FLCN):c.189del (p.Ala64fs)	rs876660611
NM_144997.7(FLCN):c.250-2A>G	rs398124533
NM_144997.7(FLCN):c.296del (p.Asp99fs)	rs398124534
NM_144997.7(FLCN):c.304A>T (p.Thr102Ser)	rs1555610938
NM_144997.7(FLCN):c.305C>A (p.Thr102Asn)
NM_144997.7(FLCN):c.319G>A (p.Val107Ile)	rs1372666497
NM_144997.7(FLCN):c.347dup (p.Leu117fs)	rs776896550
NM_144997.7(FLCN):c.383G>T (p.Ser128Ile)
NM_144997.7(FLCN):c.44dup (p.Arg17fs)	rs1131690839
NM_144997.7(FLCN):c.452T>C (p.Val151Ala)	rs373794943
NM_144997.7(FLCN):c.494G>C (p.Gly165Ala)	rs2144978314
NM_144997.7(FLCN):c.523A>T (p.Ile175Phe)	rs1410036494
NM_144997.7(FLCN):c.551A>C (p.Asn184Thr)	rs1468227944
NM_144997.7(FLCN):c.636del (p.Gln212fs)
NM_144997.7(FLCN):c.652C>T (p.Arg218Cys)	rs1555609896
NM_144997.7(FLCN):c.668A>G (p.Asn223Ser)	rs779467022
NM_144997.7(FLCN):c.688C>T (p.Leu230=)	rs1198336361
NM_144997.7(FLCN):c.716G>T (p.Arg239Leu)
NM_144997.7(FLCN):c.746A>G (p.Asn249Ser)
NM_144997.7(FLCN):c.780-10T>C
NM_144997.7(FLCN):c.79G>T (p.Ala27Ser)	rs779449668
NM_144997.7(FLCN):c.833C>G (p.Pro278Arg)	rs748031634
NM_144997.7(FLCN):c.871+2T>C	rs2544218927
NM_144997.7(FLCN):c.945G>C (p.Glu315Asp)	rs2544195834
NM_144997.7(FLCN):c.970C>T (p.Gln324Ter)	rs2144896021

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