ClinVar Miner

List of variants in gene FN1 reported as uncertain significance for hereditary disorder of connective tissue

Included ClinVar conditions (296):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 247
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_212482.4(FN1):c.3199G>A (p.Val1067Met) rs145483591 0.00021
NM_212482.4(FN1):c.141A>C (p.Gln47His) rs145263539 0.00019
NM_212482.4(FN1):c.4262C>G (p.Pro1421Arg) rs146898035 0.00016
NM_212482.4(FN1):c.1715T>C (p.Ile572Thr) rs150405747 0.00012
NM_212482.4(FN1):c.2879C>G (p.Thr960Ser) rs565714281 0.00011
NM_212482.4(FN1):c.1808A>G (p.Gln603Arg) rs200304359 0.00010
NM_212482.4(FN1):c.3020A>G (p.Asn1007Ser) rs145838840 0.00010
NM_212482.4(FN1):c.3130G>A (p.Val1044Met) rs34043251 0.00010
NM_212482.4(FN1):c.869G>A (p.Arg290His) rs150990682 0.00010
NM_212482.4(FN1):c.5741C>A (p.Thr1914Lys) rs765428225 0.00009
NM_212482.4(FN1):c.3415G>A (p.Val1139Ile) rs201181695 0.00007
NM_212482.4(FN1):c.3945T>G (p.Phe1315Leu) rs368426539 0.00007
NM_212482.4(FN1):c.3289G>A (p.Glu1097Lys) rs753807100 0.00006
NM_212482.4(FN1):c.4801C>T (p.Pro1601Ser) rs532827189 0.00006
NM_212482.4(FN1):c.5482A>G (p.Ser1828Gly) rs199941833 0.00006
NM_212482.4(FN1):c.6052C>T (p.Arg2018Cys) rs372237449 0.00006
NM_212482.4(FN1):c.862G>A (p.Asp288Asn) rs200731330 0.00006
NM_212482.4(FN1):c.3491C>T (p.Ala1164Val) rs183891852 0.00004
NM_212482.4(FN1):c.3968A>G (p.Tyr1323Cys) rs200891393 0.00004
NM_212482.4(FN1):c.4879A>G (p.Ile1627Val) rs370180533 0.00004
NM_212482.4(FN1):c.6784A>G (p.Ile2262Val) rs1330217896 0.00004
NM_212482.4(FN1):c.3061C>T (p.Arg1021Trp) rs748276504 0.00003
NM_212482.4(FN1):c.4858G>A (p.Ala1620Thr) rs766780476 0.00003
NM_212482.4(FN1):c.5237C>T (p.Pro1746Leu) rs923283804 0.00003
NM_212482.4(FN1):c.5608G>T (p.Val1870Leu) rs375667567 0.00003
NM_212482.4(FN1):c.6506C>T (p.Pro2169Leu) rs755984905 0.00003
NM_212482.4(FN1):c.587T>A (p.Val196Glu) rs758442993 0.00002
NM_212482.4(FN1):c.592G>A (p.Gly198Arg) rs561607931 0.00002
NM_212482.4(FN1):c.790G>A (p.Gly264Ser) rs950443871 0.00002
NM_212482.4(FN1):c.907C>T (p.Pro303Ser) rs750138959 0.00002
NM_212482.4(FN1):c.1544G>A (p.Arg515Gln) rs376696206 0.00001
NM_212482.4(FN1):c.2081G>A (p.Arg694His) rs1256920142 0.00001
NM_212482.4(FN1):c.2429C>T (p.Ala810Val) rs568343071 0.00001
NM_212482.4(FN1):c.3271A>G (p.Ile1091Val) rs80101897 0.00001
NM_212482.4(FN1):c.3959T>C (p.Val1320Ala) rs770129874 0.00001
NM_212482.4(FN1):c.414A>G (p.Ala138=) rs368265641 0.00001
NM_212482.4(FN1):c.4473A>T (p.Arg1491Ser) rs2059079828 0.00001
NM_212482.4(FN1):c.4520C>T (p.Thr1507Ile) rs1276858220 0.00001
NM_212482.4(FN1):c.4558G>A (p.Val1520Ile) rs201469351 0.00001
NM_212482.4(FN1):c.4586C>G (p.Pro1529Arg) rs760993609 0.00001
NM_212482.4(FN1):c.4720G>A (p.Gly1574Arg) rs764285223 0.00001
NM_212482.4(FN1):c.5602G>A (p.Val1868Met) rs369072643 0.00001
NM_212482.4(FN1):c.5659A>G (p.Lys1887Glu) rs145946514 0.00001
NM_212482.4(FN1):c.5735G>A (p.Arg1912His) rs775421803 0.00001
NM_212482.4(FN1):c.6467C>T (p.Thr2156Met) rs147481936 0.00001
NM_212482.4(FN1):c.6547G>T (p.Glu2183Ter) rs754396418 0.00001
NM_212482.4(FN1):c.6582G>A (p.Pro2194=) rs775428950 0.00001
NM_212482.4(FN1):c.749A>C (p.Asp250Ala) rs372163398 0.00001
NM_212482.4(FN1):c.860C>T (p.Thr287Ile) rs370666158 0.00001
NM_212482.4(FN1):c.864T>G (p.Asp288Glu) rs759729263 0.00001
NM_212482.4(FN1):c.1021A>G (p.Ser341Gly)
NM_212482.4(FN1):c.1036+3A>G
NM_212482.4(FN1):c.131C>T (p.Ala44Val)
NM_212482.4(FN1):c.1436G>T (p.Arg479Leu) rs761729774
NM_212482.4(FN1):c.144C>T (p.Ser48=)
NM_212482.4(FN1):c.1481T>C (p.Met494Thr) rs2064511350
NM_212482.4(FN1):c.163A>G (p.Asn55Asp)
NM_212482.4(FN1):c.1701_1718del (p.Thr568_Gly573del)
NM_212482.4(FN1):c.1729G>A (p.Glu577Lys)
NM_212482.4(FN1):c.1807C>T (p.Gln603Ter)
NM_212482.4(FN1):c.1829G>T (p.Gly610Val)
NM_212482.4(FN1):c.1888T>G (p.Trp630Gly) rs2106350896
NM_212482.4(FN1):c.1891_1892insC (p.Asn631fs)
NM_212482.4(FN1):c.191A>G (p.Gln64Arg)
NM_212482.4(FN1):c.1927C>T (p.Leu643Phe)
NM_212482.4(FN1):c.1937G>C (p.Arg646Thr)
NM_212482.4(FN1):c.1939C>T (p.Pro647Ser)
NM_212482.4(FN1):c.1958G>A (p.Arg653His)
NM_212482.4(FN1):c.1972A>G (p.Thr658Ala)
NM_212482.4(FN1):c.2062G>A (p.Gly688Ser)
NM_212482.4(FN1):c.2086G>T (p.Asp696Tyr)
NM_212482.4(FN1):c.2122+4T>C rs761852573
NM_212482.4(FN1):c.2132T>G (p.Val711Gly)
NM_212482.4(FN1):c.2150C>G (p.Pro717Arg) rs770505069
NM_212482.4(FN1):c.2212G>A (p.Val738Ile)
NM_212482.4(FN1):c.222_225dup (p.Cys76fs)
NM_212482.4(FN1):c.2233G>A (p.Asp745Asn)
NM_212482.4(FN1):c.2299+3A>T rs2062278053
NM_212482.4(FN1):c.2309G>A (p.Ser770Asn)
NM_212482.4(FN1):c.2326A>C (p.Asn776His)
NM_212482.4(FN1):c.239G>C (p.Gly80Ala)
NM_212482.4(FN1):c.2421A>G (p.Gln807=)
NM_212482.4(FN1):c.2422ACA[1] (p.Thr809del) rs1553636502
NM_212482.4(FN1):c.2427A>G (p.Thr809=)
NM_212482.4(FN1):c.2428+9G>A
NM_212482.4(FN1):c.2443C>T (p.Pro815Ser)
NM_212482.4(FN1):c.2587A>G (p.Asn863Asp)
NM_212482.4(FN1):c.2605G>A (p.Asp869Asn)
NM_212482.4(FN1):c.2627A>G (p.Tyr876Cys)
NM_212482.4(FN1):c.2735A>G (p.Asp912Gly)
NM_212482.4(FN1):c.2746G>A (p.Val916Met)
NM_212482.4(FN1):c.2806G>A (p.Gly936Ser)
NM_212482.4(FN1):c.2813G>A (p.Arg938His)
NM_212482.4(FN1):c.2830G>A (p.Val944Ile)
NM_212482.4(FN1):c.2851G>A (p.Gly951Arg)
NM_212482.4(FN1):c.2866A>G (p.Ile956Val)
NM_212482.4(FN1):c.2879C>T (p.Thr960Ile)
NM_212482.4(FN1):c.2927A>G (p.Lys976Arg)
NM_212482.4(FN1):c.3009_3010del (p.Gln1004fs)
NM_212482.4(FN1):c.3026C>T (p.Thr1009Ile)
NM_212482.4(FN1):c.3031T>G (p.Ser1011Ala)
NM_212482.4(FN1):c.3047G>C (p.Arg1016Thr)
NM_212482.4(FN1):c.3064G>T (p.Ala1022Ser)
NM_212482.4(FN1):c.3080A>G (p.Tyr1027Cys)
NM_212482.4(FN1):c.3101C>T (p.Thr1034Ile)
NM_212482.4(FN1):c.3106A>G (p.Arg1036Gly)
NM_212482.4(FN1):c.3113A>G (p.Gln1038Arg)
NM_212482.4(FN1):c.3128A>C (p.Asn1043Thr)
NM_212482.4(FN1):c.3132G>A (p.Val1044=)
NM_212482.4(FN1):c.3149A>C (p.Lys1050Thr) rs144581583
NM_212482.4(FN1):c.3150G>C (p.Lys1050Asn) rs774454208
NM_212482.4(FN1):c.3182A>C (p.Glu1061Ala)
NM_212482.4(FN1):c.3221A>G (p.Glu1074Gly)
NM_212482.4(FN1):c.3254-1G>C
NM_212482.4(FN1):c.3259C>T (p.Pro1087Ser)
NM_212482.4(FN1):c.3262G>T (p.Gly1088Trp)
NM_212482.4(FN1):c.3290A>G (p.Glu1097Gly)
NM_212482.4(FN1):c.3347A>G (p.Lys1116Arg)
NM_212482.4(FN1):c.3434C>T (p.Pro1145Leu)
NM_212482.4(FN1):c.3437G>A (p.Gly1146Glu)
NM_212482.4(FN1):c.3444A>C (p.Glu1148Asp)
NM_212482.4(FN1):c.3448G>A (p.Val1150Ile)
NM_212482.4(FN1):c.3450C>T (p.Val1150=)
NM_212482.4(FN1):c.3505A>G (p.Lys1169Glu)
NM_212482.4(FN1):c.3508G>C (p.Val1170Leu)
NM_212482.4(FN1):c.3517+1G>A
NM_212482.4(FN1):c.3518-17A>G
NM_212482.4(FN1):c.3562A>G (p.Thr1188Ala)
NM_212482.4(FN1):c.3590G>A (p.Arg1197Lys)
NM_212482.4(FN1):c.3652G>A (p.Gly1218Arg)
NM_212482.4(FN1):c.371C>A (p.Thr124Asn)
NM_212482.4(FN1):c.3731A>G (p.Asn1244Ser)
NM_212482.4(FN1):c.3797-12G>C
NM_212482.4(FN1):c.3797-1G>A
NM_212482.4(FN1):c.3827T>C (p.Val1276Ala)
NM_212482.4(FN1):c.382G>A (p.Ala128Thr)
NM_212482.4(FN1):c.3838G>A (p.Asp1280Asn)
NM_212482.4(FN1):c.3896G>A (p.Arg1299His)
NM_212482.4(FN1):c.411C>G (p.Ile137Met)
NM_212482.4(FN1):c.416-4A>G
NM_212482.4(FN1):c.4281G>A (p.Val1427=)
NM_212482.4(FN1):c.4325G>A (p.Arg1442Lys)
NM_212482.4(FN1):c.4342+2T>C
NM_212482.4(FN1):c.4382C>T (p.Thr1461Ile)
NM_212482.4(FN1):c.4397C>T (p.Thr1466Ile)
NM_212482.4(FN1):c.4445G>A (p.Arg1482His)
NM_212482.4(FN1):c.4508C>T (p.Ser1503Phe)
NM_212482.4(FN1):c.4523A>G (p.Asn1508Ser)
NM_212482.4(FN1):c.4535G>T (p.Gly1512Val)
NM_212482.4(FN1):c.4595T>A (p.Ile1532Asn)
NM_212482.4(FN1):c.4597G>A (p.Gly1533Ser)
NM_212482.4(FN1):c.4605A>G (p.Gln1535=)
NM_212482.4(FN1):c.4612+20A>G
NM_212482.4(FN1):c.4633C>G (p.Leu1545Val)
NM_212482.4(FN1):c.4649C>A (p.Ala1550Glu) rs202245868
NM_212482.4(FN1):c.4654C>A (p.Pro1552Thr)
NM_212482.4(FN1):c.4670T>C (p.Ile1557Thr)
NM_212482.4(FN1):c.4685C>G (p.Pro1562Arg)
NM_212482.4(FN1):c.4730-6A>T
NM_212482.4(FN1):c.4738A>G (p.Ser1580Gly)
NM_212482.4(FN1):c.4744G>A (p.Val1582Ile)
NM_212482.4(FN1):c.4769G>A (p.Ser1590Asn)
NM_212482.4(FN1):c.4778C>T (p.Thr1593Ile)
NM_212482.4(FN1):c.4792G>A (p.Gly1598Ser)
NM_212482.4(FN1):c.4817C>G (p.Thr1606Ser)
NM_212482.4(FN1):c.4858G>T (p.Ala1620Ser)
NM_212482.4(FN1):c.4873A>G (p.Ile1625Val)
NM_212482.4(FN1):c.4874T>C (p.Ile1625Thr)
NM_212482.4(FN1):c.487T>A (p.Tyr163Asn)
NM_212482.4(FN1):c.4892C>A (p.Thr1631Lys)
NM_212482.4(FN1):c.4948A>C (p.Ser1650Arg)
NM_212482.4(FN1):c.4973C>T (p.Ser1658Phe)
NM_212482.4(FN1):c.5003C>G (p.Thr1668Ser)
NM_212482.4(FN1):c.5164+3A>G rs2105944563
NM_212482.4(FN1):c.5164+4C>T
NM_212482.4(FN1):c.5165-9G>T
NM_212482.4(FN1):c.5173C>T (p.Arg1725Cys)
NM_212482.4(FN1):c.5177del (p.Pro1726fs)
NM_212482.4(FN1):c.5240A>G (p.Gln1747Arg)
NM_212482.4(FN1):c.5267C>A (p.Thr1756Asn)
NM_212482.4(FN1):c.5267C>T (p.Thr1756Ile)
NM_212482.4(FN1):c.5294A>G (p.His1765Arg)
NM_212482.4(FN1):c.5369_5370del (p.Thr1790fs) rs771111687
NM_212482.4(FN1):c.5391C>T (p.His1797=)
NM_212482.4(FN1):c.5399T>G (p.Met1800Arg)
NM_212482.4(FN1):c.5401_5402delinsTT (p.Glu1801Leu)
NM_212482.4(FN1):c.5415G>C (p.Leu1805=)
NM_212482.4(FN1):c.5417T>C (p.Ile1806Thr)
NM_212482.4(FN1):c.5429C>G (p.Ser1810Cys)
NM_212482.4(FN1):c.5435-10A>G
NM_212482.4(FN1):c.5449A>G (p.Thr1817Ala)
NM_212482.4(FN1):c.5528A>G (p.Tyr1843Cys)
NM_212482.4(FN1):c.5537G>A (p.Arg1846Gln)
NM_212482.4(FN1):c.5563C>T (p.Pro1855Ser)
NM_212482.4(FN1):c.5597C>T (p.Ser1866Leu)
NM_212482.4(FN1):c.568G>A (p.Ala190Thr)
NM_212482.4(FN1):c.5696T>C (p.Val1899Ala)
NM_212482.4(FN1):c.5708A>G (p.Glu1903Gly)
NM_212482.4(FN1):c.5714T>G (p.Val1905Gly)
NM_212482.4(FN1):c.5734C>T (p.Arg1912Cys)
NM_212482.4(FN1):c.5765C>T (p.Thr1922Ile)
NM_212482.4(FN1):c.5769T>G (p.Ile1923Met)
NM_212482.4(FN1):c.6060G>C (p.Arg2020Ser)
NM_212482.4(FN1):c.6127C>T (p.Arg2043Cys)
NM_212482.4(FN1):c.6133G>C (p.Gly2045Arg)
NM_212482.4(FN1):c.6158-6C>G
NM_212482.4(FN1):c.6175G>A (p.Glu2059Lys)
NM_212482.4(FN1):c.6202A>G (p.Lys2068Glu)
NM_212482.4(FN1):c.6248-18C>T
NM_212482.4(FN1):c.6261A>C (p.Gln2087His)
NM_212482.4(FN1):c.6265G>A (p.Val2089Ile)
NM_212482.4(FN1):c.6277C>T (p.His2093Tyr)
NM_212482.4(FN1):c.6278A>G (p.His2093Arg)
NM_212482.4(FN1):c.6290A>G (p.His2097Arg)
NM_212482.4(FN1):c.629T>C (p.Met210Thr)
NM_212482.4(FN1):c.6321A>C (p.Thr2107=)
NM_212482.4(FN1):c.6330G>C (p.Lys2110Asn)
NM_212482.4(FN1):c.6332C>T (p.Thr2111Ile)
NM_212482.4(FN1):c.6355T>C (p.Tyr2119His)
NM_212482.4(FN1):c.6455C>T (p.Thr2152Ile)
NM_212482.4(FN1):c.6458C>T (p.Pro2153Leu)
NM_212482.4(FN1):c.6466A>G (p.Thr2156Ala)
NM_212482.4(FN1):c.6475C>G (p.Pro2159Ala)
NM_212482.4(FN1):c.6493A>G (p.Arg2165Gly)
NM_212482.4(FN1):c.6526C>T (p.Gln2176Ter)
NM_212482.4(FN1):c.6581C>T (p.Pro2194Leu)
NM_212482.4(FN1):c.6590A>G (p.Asn2197Ser)
NM_212482.4(FN1):c.6610C>T (p.Gln2204Ter)
NM_212482.4(FN1):c.6661T>G (p.Ser2221Ala)
NM_212482.4(FN1):c.6707C>T (p.Pro2236Leu)
NM_212482.4(FN1):c.6719G>C (p.Arg2240Thr)
NM_212482.4(FN1):c.6720G>T (p.Arg2240Ser)
NM_212482.4(FN1):c.6721G>A (p.Val2241Ile)
NM_212482.4(FN1):c.6785T>C (p.Ile2262Thr)
NM_212482.4(FN1):c.6829G>A (p.Glu2277Lys)
NM_212482.4(FN1):c.6832GTT[1] (p.Val2279del)
NM_212482.4(FN1):c.6836T>C (p.Val2279Ala)
NM_212482.4(FN1):c.715T>A (p.Ser239Thr)
NM_212482.4(FN1):c.770A>G (p.Gln257Arg)
NM_212482.4(FN1):c.794G>A (p.Arg265Gln)
NM_212482.4(FN1):c.817C>T (p.His273Tyr)
NM_212482.4(FN1):c.843C>T (p.Ser281=)
NM_212482.4(FN1):c.847T>C (p.Ser283Pro)
NM_212482.4(FN1):c.860C>G (p.Thr287Ser)
NM_212482.4(FN1):c.920A>G (p.His307Arg)
NM_212482.4(FN1):c.985A>C (p.Lys329Gln)
NM_212482.4(FN1):c.998G>T (p.Cys333Phe)

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.