ClinVar Miner

List of variants in gene combination CCDST, FLG2 studied for not specified

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 221
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HGVS dbSNP gnomAD frequency
NM_001014342.3(FLG2):c.5914T>A (p.Ser1972Thr) rs144875878 0.00096
NM_001014342.3(FLG2):c.6835G>A (p.Ala2279Thr) rs138450657 0.00085
NM_001014342.3(FLG2):c.5929G>A (p.Gly1977Ser) rs148541975 0.00069
NM_001014342.3(FLG2):c.1521G>C (p.Gln507His) rs111556453 0.00061
NM_001014342.3(FLG2):c.311G>A (p.Arg104His) rs140914817 0.00050
NM_001014342.3(FLG2):c.4541C>T (p.Ser1514Leu) rs144607715 0.00043
NM_001014342.3(FLG2):c.5275T>C (p.Ser1759Pro) rs150886902 0.00032
NM_001014342.3(FLG2):c.5663T>C (p.Val1888Ala) rs148592710 0.00029
NM_001014342.3(FLG2):c.6455G>T (p.Gly2152Val) rs138607426 0.00027
NM_001014342.3(FLG2):c.5135T>C (p.Leu1712Ser) rs144002069 0.00026
NM_001014342.3(FLG2):c.2885G>A (p.Gly962Asp) rs145907775 0.00022
NM_001014342.3(FLG2):c.3959A>T (p.Asp1320Val) rs143575562 0.00020
NM_001014342.3(FLG2):c.3365C>T (p.Ser1122Leu) rs147962757 0.00019
NM_001014342.3(FLG2):c.4108C>T (p.His1370Tyr) rs146832545 0.00019
NM_001014342.3(FLG2):c.955T>A (p.Ser319Thr) rs147381497 0.00018
NM_001014342.3(FLG2):c.4496C>A (p.Ser1499Tyr) rs139011196 0.00015
NM_001014342.3(FLG2):c.5723A>G (p.His1908Arg) rs147272606 0.00015
NM_001014342.3(FLG2):c.5830G>A (p.Gly1944Arg) rs200946758 0.00015
NM_001014342.3(FLG2):c.732G>C (p.Leu244Phe) rs147204956 0.00015
NM_001014342.3(FLG2):c.1208G>A (p.Arg403His) rs149294520 0.00014
NM_001014342.3(FLG2):c.3777G>C (p.Gln1259His) rs376664046 0.00013
NM_001014342.3(FLG2):c.4411C>A (p.Gln1471Lys) rs201511707 0.00012
NM_001014342.3(FLG2):c.5122T>C (p.Tyr1708His) rs199599567 0.00012
NM_001014342.3(FLG2):c.2942C>T (p.Ser981Leu) rs370804010 0.00011
NM_001014342.3(FLG2):c.3333G>T (p.Gln1111His) rs371867108 0.00011
NM_001014342.3(FLG2):c.6818G>A (p.Gly2273Glu) rs192946027 0.00011
NM_001014342.3(FLG2):c.5798G>A (p.Gly1933Asp) rs183469872 0.00008
NM_001014342.3(FLG2):c.6647A>T (p.His2216Leu) rs202147715 0.00008
NM_001014342.3(FLG2):c.1936G>A (p.Gly646Arg) rs148340134 0.00007
NM_001014342.3(FLG2):c.2437G>A (p.Gly813Ser) rs138803355 0.00006
NM_001014342.3(FLG2):c.386A>G (p.Tyr129Cys) rs747912480 0.00006
NM_001014342.3(FLG2):c.4923A>T (p.Arg1641Ser) rs756082008 0.00006
NM_001014342.3(FLG2):c.1327G>A (p.Glu443Lys) rs747766822 0.00005
NM_001014342.3(FLG2):c.2329T>C (p.Ser777Pro) rs543364053 0.00005
NM_001014342.3(FLG2):c.5905C>A (p.His1969Asn) rs376795828 0.00005
NM_001014342.3(FLG2):c.6938G>A (p.Gly2313Glu) rs201036750 0.00005
NM_001014342.3(FLG2):c.3175G>A (p.Gly1059Arg) rs1006815663 0.00004
NM_001014342.3(FLG2):c.5519T>C (p.Val1840Ala) rs745678733 0.00004
NM_001014342.3(FLG2):c.1044G>C (p.Gln348His) rs779200784 0.00003
NM_001014342.3(FLG2):c.1676A>G (p.Tyr559Cys) rs747918610 0.00003
NM_001014342.3(FLG2):c.2780C>A (p.Ser927Tyr) rs762019580 0.00003
NM_001014342.3(FLG2):c.2899G>A (p.Gly967Ser) rs564739365 0.00003
NM_001014342.3(FLG2):c.4669G>A (p.Gly1557Ser) rs746462312 0.00003
NM_001014342.3(FLG2):c.4691C>T (p.Thr1564Ile) rs753732309 0.00003
NM_001014342.3(FLG2):c.5479G>A (p.Gly1827Ser) rs537736592 0.00003
NM_001014342.3(FLG2):c.6665C>T (p.Thr2222Ile) rs754556065 0.00003
NM_001014342.3(FLG2):c.2155T>C (p.Phe719Leu) rs369031792 0.00002
NM_001014342.3(FLG2):c.2465A>G (p.Gln822Arg) rs774816289 0.00002
NM_001014342.3(FLG2):c.2641T>C (p.Tyr881His) rs749448210 0.00002
NM_001014342.3(FLG2):c.3214C>T (p.Arg1072Cys) rs774907826 0.00002
NM_001014342.3(FLG2):c.3266A>G (p.Tyr1089Cys) rs780018291 0.00002
NM_001014342.3(FLG2):c.3440G>T (p.Arg1147Ile) rs1352699945 0.00002
NM_001014342.3(FLG2):c.4595C>T (p.Ser1532Leu) rs758393445 0.00002
NM_001014342.3(FLG2):c.5288T>G (p.Val1763Gly) rs1270952543 0.00002
NM_001014342.3(FLG2):c.5581G>T (p.Gly1861Cys) rs201976970 0.00002
NM_001014342.3(FLG2):c.5597C>G (p.Thr1866Arg) rs369775361 0.00002
NM_001014342.3(FLG2):c.5976G>C (p.Glu1992Asp) rs1858484 0.00002
NM_001014342.3(FLG2):c.5983G>A (p.Gly1995Arg) rs148224294 0.00002
NM_001014342.3(FLG2):c.6020A>G (p.His2007Arg) rs762900875 0.00002
NM_001014342.3(FLG2):c.6143G>A (p.Gly2048Glu) rs772380958 0.00002
NM_001014342.3(FLG2):c.1015G>A (p.Gly339Ser) rs760798331 0.00001
NM_001014342.3(FLG2):c.109C>G (p.Leu37Val) rs1481960420 0.00001
NM_001014342.3(FLG2):c.1106A>T (p.Gln369Leu) rs1326753865 0.00001
NM_001014342.3(FLG2):c.1373C>G (p.Ser458Cys) rs529207810 0.00001
NM_001014342.3(FLG2):c.1912C>G (p.Gln638Glu) rs758000941 0.00001
NM_001014342.3(FLG2):c.2014G>A (p.Val672Ile) rs1261118882 0.00001
NM_001014342.3(FLG2):c.2086C>A (p.His696Asn) rs765522033 0.00001
NM_001014342.3(FLG2):c.2125C>T (p.His709Tyr) rs148289047 0.00001
NM_001014342.3(FLG2):c.2251G>A (p.Gly751Ser) rs779833432 0.00001
NM_001014342.3(FLG2):c.2311G>A (p.Gly771Ser) rs776225776 0.00001
NM_001014342.3(FLG2):c.2449T>C (p.Ser817Pro) rs750946267 0.00001
NM_001014342.3(FLG2):c.2725G>T (p.Gly909Cys) rs781552994 0.00001
NM_001014342.3(FLG2):c.2774A>G (p.His925Arg) rs773281253 0.00001
NM_001014342.3(FLG2):c.2813A>G (p.His938Arg) rs777538011 0.00001
NM_001014342.3(FLG2):c.3035A>G (p.Tyr1012Cys) rs372519159 0.00001
NM_001014342.3(FLG2):c.3110G>T (p.Gly1037Val) rs761581053 0.00001
NM_001014342.3(FLG2):c.3251G>A (p.Ser1084Asn) rs1222886997 0.00001
NM_001014342.3(FLG2):c.4856C>A (p.Thr1619Asn) rs749228510 0.00001
NM_001014342.3(FLG2):c.5017A>T (p.Thr1673Ser) rs751228005 0.00001
NM_001014342.3(FLG2):c.5191T>G (p.Tyr1731Asp) rs773288041 0.00001
NM_001014342.3(FLG2):c.5333C>G (p.Thr1778Ser) rs542065575 0.00001
NM_001014342.3(FLG2):c.5578T>C (p.Ser1860Pro) rs773959307 0.00001
NM_001014342.3(FLG2):c.5609C>T (p.Ser1870Phe) rs755060013 0.00001
NM_001014342.3(FLG2):c.5642G>A (p.Ser1881Asn) rs373130043 0.00001
NM_001014342.3(FLG2):c.5693G>A (p.Gly1898Glu) rs763733406 0.00001
NM_001014342.3(FLG2):c.5939G>T (p.Gly1980Val) rs1417143044 0.00001
NM_001014342.3(FLG2):c.6515C>A (p.Thr2172Lys) rs1653906379 0.00001
NM_001014342.3(FLG2):c.6644G>A (p.Gly2215Asp) rs755839824 0.00001
NM_001014342.3(FLG2):c.6679G>A (p.Gly2227Arg) rs1232071067 0.00001
NM_001014342.3(FLG2):c.722C>T (p.Ser241Leu) rs1351524792 0.00001
NM_001014342.3(FLG2):c.791G>T (p.Gly264Val) rs769460053 0.00001
NM_001014342.3(FLG2):c.1063T>C (p.Tyr355His)
NM_001014342.3(FLG2):c.1108T>C (p.Trp370Arg)
NM_001014342.3(FLG2):c.1264G>C (p.Gly422Arg)
NM_001014342.3(FLG2):c.1306T>A (p.Leu436Met)
NM_001014342.3(FLG2):c.1335T>G (p.His445Gln)
NM_001014342.3(FLG2):c.1358G>A (p.Cys453Tyr) rs2525350224
NM_001014342.3(FLG2):c.1460G>C (p.Gly487Ala)
NM_001014342.3(FLG2):c.148G>A (p.Asp50Asn) rs1654300540
NM_001014342.3(FLG2):c.1493G>A (p.Gly498Asp)
NM_001014342.3(FLG2):c.1526G>T (p.Gly509Val) rs961111246
NM_001014342.3(FLG2):c.1579C>G (p.Gln527Glu)
NM_001014342.3(FLG2):c.1636C>T (p.His546Tyr) rs764487178
NM_001014342.3(FLG2):c.1640G>A (p.Gly547Asp) rs753171763
NM_001014342.3(FLG2):c.1645G>T (p.Gly549Cys)
NM_001014342.3(FLG2):c.1667A>G (p.Tyr556Cys)
NM_001014342.3(FLG2):c.1700T>C (p.Phe567Ser) rs2525348852
NM_001014342.3(FLG2):c.1754C>T (p.Ser585Leu)
NM_001014342.3(FLG2):c.1783C>A (p.Gln595Lys)
NM_001014342.3(FLG2):c.1790G>C (p.Gly597Ala) rs1397952364
NM_001014342.3(FLG2):c.1826A>C (p.His609Pro)
NM_001014342.3(FLG2):c.1830G>T (p.Glu610Asp)
NM_001014342.3(FLG2):c.1831T>C (p.Ser611Pro)
NM_001014342.3(FLG2):c.1835G>A (p.Arg612Lys)
NM_001014342.3(FLG2):c.1885T>G (p.Ser629Ala)
NM_001014342.3(FLG2):c.1949G>A (p.Ser650Asn)
NM_001014342.3(FLG2):c.1969C>G (p.Gln657Glu) rs141518691
NM_001014342.3(FLG2):c.1982G>T (p.Gly661Val)
NM_001014342.3(FLG2):c.2032T>C (p.Ser678Pro)
NM_001014342.3(FLG2):c.2050C>T (p.His684Tyr) rs2525347331
NM_001014342.3(FLG2):c.2075G>A (p.Ser692Asn)
NM_001014342.3(FLG2):c.2269G>C (p.Gly757Arg)
NM_001014342.3(FLG2):c.2276G>A (p.Gly759Glu)
NM_001014342.3(FLG2):c.2333G>C (p.Ser778Thr) rs2525345781
NM_001014342.3(FLG2):c.2353C>A (p.Gln785Lys) rs778802866
NM_001014342.3(FLG2):c.2357A>G (p.His786Arg)
NM_001014342.3(FLG2):c.2393G>A (p.Gly798Glu)
NM_001014342.3(FLG2):c.2443G>T (p.Gly815Cys)
NM_001014342.3(FLG2):c.2471G>T (p.Gly824Val) rs759032018
NM_001014342.3(FLG2):c.2477G>A (p.Gly826Asp) rs749047338
NM_001014342.3(FLG2):c.2563T>A (p.Ser855Thr) rs967639963
NM_001014342.3(FLG2):c.2738A>T (p.His913Leu)
NM_001014342.3(FLG2):c.2759C>T (p.Ser920Phe)
NM_001014342.3(FLG2):c.2789G>A (p.Ser930Asn) rs2525343351
NM_001014342.3(FLG2):c.2803T>C (p.Tyr935His)
NM_001014342.3(FLG2):c.2813A>T (p.His938Leu)
NM_001014342.3(FLG2):c.2837T>C (p.Phe946Ser) rs746313861
NM_001014342.3(FLG2):c.2857T>G (p.Ser953Ala)
NM_001014342.3(FLG2):c.2973G>T (p.Glu991Asp)
NM_001014342.3(FLG2):c.2975C>G (p.Ser992Cys) rs1654129789
NM_001014342.3(FLG2):c.3008G>C (p.Gly1003Ala) rs1466498894
NM_001014342.3(FLG2):c.3215G>A (p.Arg1072His) rs767452601
NM_001014342.3(FLG2):c.3239G>T (p.Gly1080Val) rs2525341289
NM_001014342.3(FLG2):c.3290G>T (p.Gly1097Val) rs2525341156
NM_001014342.3(FLG2):c.3318G>T (p.Arg1106Ser)
NM_001014342.3(FLG2):c.3403A>G (p.Thr1135Ala)
NM_001014342.3(FLG2):c.340G>C (p.Glu114Gln)
NM_001014342.3(FLG2):c.3418G>C (p.Gly1140Arg)
NM_001014342.3(FLG2):c.3424G>T (p.Ala1142Ser) rs2525340575
NM_001014342.3(FLG2):c.3547G>T (p.Val1183Leu) rs138753730
NM_001014342.3(FLG2):c.3566T>C (p.Phe1189Ser)
NM_001014342.3(FLG2):c.3599G>T (p.Gly1200Val)
NM_001014342.3(FLG2):c.359A>T (p.Glu120Val)
NM_001014342.3(FLG2):c.3637G>C (p.Gly1213Arg)
NM_001014342.3(FLG2):c.3660G>C (p.Gln1220His) rs1467623625
NM_001014342.3(FLG2):c.3701G>A (p.Gly1234Glu)
NM_001014342.3(FLG2):c.3749G>A (p.Ser1250Asn) rs1654090543
NM_001014342.3(FLG2):c.3760C>G (p.Gln1254Glu)
NM_001014342.3(FLG2):c.3793A>G (p.Thr1265Ala) rs1654085743
NM_001014342.3(FLG2):c.3850G>C (p.Val1284Leu) rs775944212
NM_001014342.3(FLG2):c.3923G>A (p.Arg1308His) rs201967124
NM_001014342.3(FLG2):c.3923G>T (p.Arg1308Leu)
NM_001014342.3(FLG2):c.4110C>G (p.His1370Gln)
NM_001014342.3(FLG2):c.4164T>A (p.His1388Gln) rs756210248
NM_001014342.3(FLG2):c.4252G>A (p.Gly1418Arg)
NM_001014342.3(FLG2):c.4261G>A (p.Gly1421Arg)
NM_001014342.3(FLG2):c.4382T>A (p.Val1461Asp) rs1187329256
NM_001014342.3(FLG2):c.4534G>C (p.Gly1512Arg)
NM_001014342.3(FLG2):c.45C>A (p.Phe15Leu)
NM_001014342.3(FLG2):c.4633G>A (p.Gly1545Arg)
NM_001014342.3(FLG2):c.4655G>C (p.Arg1552Thr)
NM_001014342.3(FLG2):c.4700G>A (p.Arg1567Lys) rs1277440694
NM_001014342.3(FLG2):c.4730G>A (p.Ser1577Asn)
NM_001014342.3(FLG2):c.476C>G (p.Ser159Cys) rs2101682059
NM_001014342.3(FLG2):c.4784G>A (p.Arg1595Gln)
NM_001014342.3(FLG2):c.4786G>A (p.Glu1596Lys)
NM_001014342.3(FLG2):c.494A>T (p.Gln165Leu) rs756337463
NM_001014342.3(FLG2):c.4981G>T (p.Val1661Leu) rs2525333087
NM_001014342.3(FLG2):c.5156G>C (p.Arg1719Thr)
NM_001014342.3(FLG2):c.5174G>C (p.Gly1725Ala)
NM_001014342.3(FLG2):c.5180G>A (p.Gly1727Asp)
NM_001014342.3(FLG2):c.5313T>G (p.His1771Gln)
NM_001014342.3(FLG2):c.5320A>G (p.Thr1774Ala)
NM_001014342.3(FLG2):c.5396G>A (p.Arg1799Lys)
NM_001014342.3(FLG2):c.5402C>T (p.Ser1801Phe)
NM_001014342.3(FLG2):c.5524G>A (p.Glu1842Lys)
NM_001014342.3(FLG2):c.5579C>T (p.Ser1860Phe)
NM_001014342.3(FLG2):c.557G>A (p.Cys186Tyr)
NM_001014342.3(FLG2):c.5599C>A (p.Gln1867Lys) rs1653967038
NM_001014342.3(FLG2):c.5626A>G (p.Arg1876Gly)
NM_001014342.3(FLG2):c.5684C>T (p.Thr1895Ile) rs1305913928
NM_001014342.3(FLG2):c.5703C>G (p.His1901Gln)
NM_001014342.3(FLG2):c.5767C>G (p.His1923Asp)
NM_001014342.3(FLG2):c.5794C>T (p.His1932Tyr)
NM_001014342.3(FLG2):c.5852G>A (p.Arg1951Lys) rs1397520152
NM_001014342.3(FLG2):c.5882G>T (p.Ser1961Ile) rs372778870
NM_001014342.3(FLG2):c.5888G>A (p.Gly1963Glu)
NM_001014342.3(FLG2):c.5888G>T (p.Gly1963Val)
NM_001014342.3(FLG2):c.5905C>T (p.His1969Tyr) rs376795828
NM_001014342.3(FLG2):c.6049C>G (p.Gln2017Glu)
NM_001014342.3(FLG2):c.6068C>T (p.Thr2023Ile) rs1653933208
NM_001014342.3(FLG2):c.6098A>C (p.Tyr2033Ser) rs755816906
NM_001014342.3(FLG2):c.6132C>A (p.His2044Gln)
NM_001014342.3(FLG2):c.6132C>G (p.His2044Gln)
NM_001014342.3(FLG2):c.6155G>A (p.Gly2052Asp)
NM_001014342.3(FLG2):c.6349G>C (p.Val2117Leu) rs371952347
NM_001014342.3(FLG2):c.6349G>T (p.Val2117Phe) rs371952347
NM_001014342.3(FLG2):c.6350T>C (p.Val2117Ala)
NM_001014342.3(FLG2):c.6506G>C (p.Gly2169Ala) rs748312063
NM_001014342.3(FLG2):c.6559G>A (p.Glu2187Lys)
NM_001014342.3(FLG2):c.6566A>C (p.His2189Pro)
NM_001014342.3(FLG2):c.6617C>T (p.Ser2206Phe) rs768873017
NM_001014342.3(FLG2):c.6620G>C (p.Arg2207Pro) rs146579981
NM_001014342.3(FLG2):c.6668A>G (p.His2223Arg)
NM_001014342.3(FLG2):c.6677C>G (p.Thr2226Arg)
NM_001014342.3(FLG2):c.667T>C (p.Tyr223His)
NM_001014342.3(FLG2):c.6709T>C (p.Tyr2237His)
NM_001014342.3(FLG2):c.6782G>A (p.Ser2261Asn)
NM_001014342.3(FLG2):c.6829G>A (p.Gly2277Ser)
NM_001014342.3(FLG2):c.7069G>A (p.Gly2357Arg)
NM_001014342.3(FLG2):c.961A>T (p.Ile321Phe)

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