ClinVar Miner

List of variants reported as uncertain significance for Congenital contractural arachnodactyly by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 128
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001999.4(FBN2):c.-338G>A rs776638871 0.00039
NM_001999.4(FBN2):c.4472-11A>T rs528062851 0.00034
NM_001999.4(FBN2):c.1850-9C>T rs199937209 0.00026
NM_001999.4(FBN2):c.3394G>A (p.Val1132Ile) rs138834515 0.00021
NM_001999.4(FBN2):c.*671G>A rs886059886 0.00016
NM_001999.4(FBN2):c.*1009A>G rs375097557 0.00014
NM_001999.4(FBN2):c.3341C>T (p.Thr1114Met) rs202219940 0.00014
NM_001999.4(FBN2):c.2252A>C (p.Glu751Ala) rs147610681 0.00013
NM_001999.4(FBN2):c.2625T>C (p.Cys875=) rs371502563 0.00012
NM_001999.4(FBN2):c.2990-14C>T rs377500777 0.00012
NM_001999.4(FBN2):c.*642A>G rs950545343 0.00009
NM_001999.4(FBN2):c.3013T>C (p.Leu1005=) rs147633551 0.00009
NM_001999.4(FBN2):c.8239C>G (p.Leu2747Val) rs145353444 0.00009
NM_001999.4(FBN2):c.*1118T>C rs776542113 0.00008
NM_001999.4(FBN2):c.7212C>T (p.Leu2404=) rs368506842 0.00008
NM_001999.4(FBN2):c.5495G>A (p.Arg1832His) rs140276399 0.00007
NM_001999.4(FBN2):c.1181G>A (p.Arg394His) rs150790914 0.00006
NM_001999.4(FBN2):c.2508G>A (p.Thr836=) rs372872626 0.00006
NM_001999.4(FBN2):c.5800+5G>A rs375487064 0.00006
NM_001999.4(FBN2):c.7808T>C (p.Phe2603Ser) rs374507398 0.00006
NM_001999.4(FBN2):c.*879C>T rs774452401 0.00004
NM_001999.4(FBN2):c.1078+12A>C rs769211487 0.00004
NM_001999.4(FBN2):c.1968T>C (p.Cys656=) rs750685055 0.00004
NM_001999.4(FBN2):c.6628C>T (p.Arg2210Cys) rs200158069 0.00004
NM_001999.4(FBN2):c.1423G>A (p.Gly475Ser) rs200440156 0.00003
NM_001999.4(FBN2):c.2214A>T (p.Gly738=) rs201548788 0.00003
NM_001999.4(FBN2):c.3061C>T (p.Arg1021Cys) rs541842635 0.00003
NM_001999.4(FBN2):c.3980A>G (p.Asn1327Ser) rs762567430 0.00003
NM_001999.4(FBN2):c.4914C>T (p.Gly1638=) rs1482008222 0.00003
NM_001999.4(FBN2):c.7338T>C (p.Asp2446=) rs751824761 0.00003
NM_001999.4(FBN2):c.1253T>C (p.Met418Thr) rs769840338 0.00002
NM_001999.4(FBN2):c.1685C>T (p.Ala562Val) rs886059902 0.00002
NM_001999.4(FBN2):c.1961G>A (p.Arg654His) rs780589159 0.00002
NM_001999.4(FBN2):c.2036C>T (p.Ser679Phe) rs760483684 0.00002
NM_001999.4(FBN2):c.2901A>G (p.Pro967=) rs185991527 0.00002
NM_001999.4(FBN2):c.2902A>G (p.Asn968Asp) rs774248421 0.00002
NM_001999.4(FBN2):c.2941G>A (p.Glu981Lys) rs758694112 0.00002
NM_001999.4(FBN2):c.4489T>G (p.Phe1497Val) rs150986564 0.00002
NM_001999.4(FBN2):c.6910G>A (p.Asp2304Asn) rs368802769 0.00002
NM_001999.4(FBN2):c.6994G>A (p.Asp2332Asn) rs886059894 0.00002
NM_001999.4(FBN2):c.7137T>G (p.Leu2379=) rs765676702 0.00002
NM_001999.4(FBN2):c.*1239A>G rs765057642 0.00001
NM_001999.4(FBN2):c.*1315C>G rs886059883 0.00001
NM_001999.4(FBN2):c.*244T>C rs886059889 0.00001
NM_001999.4(FBN2):c.*745C>G rs754492977 0.00001
NM_001999.4(FBN2):c.-219C>G rs886059905 0.00001
NM_001999.4(FBN2):c.1143G>T (p.Gly381=) rs749428195 0.00001
NM_001999.4(FBN2):c.2099C>T (p.Thr700Ile) rs773667668 0.00001
NM_001999.4(FBN2):c.3277A>G (p.Ile1093Val) rs747248488 0.00001
NM_001999.4(FBN2):c.3577C>T (p.Pro1193Ser) rs749905043 0.00001
NM_001999.4(FBN2):c.3724+11A>G rs886059900 0.00001
NM_001999.4(FBN2):c.37T>C (p.Phe13Leu) rs957639025 0.00001
NM_001999.4(FBN2):c.4608T>C (p.Cys1536=) rs1176811808 0.00001
NM_001999.4(FBN2):c.472A>T (p.Thr158Ser) rs886059904 0.00001
NM_001999.4(FBN2):c.5587C>T (p.Arg1863Trp) rs1192632165 0.00001
NM_001999.4(FBN2):c.6033C>G (p.Gly2011=) rs749647897 0.00001
NM_001999.4(FBN2):c.6438C>T (p.Asp2146=) rs772832233 0.00001
NM_001999.4(FBN2):c.671T>C (p.Met224Thr) rs886038798 0.00001
NM_001999.4(FBN2):c.680G>A (p.Gly227Glu) rs760247833 0.00001
NM_001999.4(FBN2):c.6959T>C (p.Met2320Thr) rs749681942 0.00001
NM_001999.4(FBN2):c.734G>A (p.Arg245Gln) rs747507457 0.00001
NM_001999.4(FBN2):c.8423A>G (p.Asn2808Ser) rs772227931 0.00001
NM_001999.4(FBN2):c.8426T>C (p.Leu2809Pro) rs863223591 0.00001
NM_001999.4(FBN2):c.8601A>G (p.Thr2867=) rs542824837 0.00001
NM_001999.4(FBN2):c.*100A>C rs886059890
NM_001999.4(FBN2):c.*1050GTT[6] rs886059885
NM_001999.4(FBN2):c.*1102G>A rs1764871127
NM_001999.4(FBN2):c.*1111C>A rs886059884
NM_001999.4(FBN2):c.*1111C>T rs886059884
NM_001999.4(FBN2):c.*1420A>C rs886059882
NM_001999.4(FBN2):c.*1420_*1421dup rs143731656
NM_001999.4(FBN2):c.*1507A>G rs1764860915
NM_001999.4(FBN2):c.*284C>T rs886059888
NM_001999.4(FBN2):c.*322_*323dup rs536242166
NM_001999.4(FBN2):c.*323dup rs536242166
NM_001999.4(FBN2):c.*557C>T rs886059887
NM_001999.4(FBN2):c.*686C>T rs1764882009
NM_001999.4(FBN2):c.*716A>G rs1581169601
NM_001999.4(FBN2):c.-173G>A rs1044506328
NM_001999.4(FBN2):c.-173G>C rs1044506328
NM_001999.4(FBN2):c.-190C>G rs998131843
NM_001999.4(FBN2):c.-430A>C rs1756908339
NM_001999.4(FBN2):c.1007A>G (p.Asn336Ser) rs1752993803
NM_001999.4(FBN2):c.2060G>T (p.Gly687Val) rs769947673
NM_001999.4(FBN2):c.2148_2151dup (p.Pro718fs) rs2126947501
NM_001999.4(FBN2):c.2698C>G (p.Leu900Val) rs1057524854
NM_001999.4(FBN2):c.2779G>A (p.Ala927Thr) rs863223559
NM_001999.4(FBN2):c.3062G>A (p.Arg1021His) rs139620380
NM_001999.4(FBN2):c.3062G>C (p.Arg1021Pro) rs139620380
NM_001999.4(FBN2):c.3218-13A>T rs200543836
NM_001999.4(FBN2):c.3322A>G (p.Met1108Val) rs148127874
NM_001999.4(FBN2):c.3429C>A (p.Phe1143Leu) rs886059901
NM_001999.4(FBN2):c.3507T>C (p.Cys1169=) rs1750894040
NM_001999.4(FBN2):c.3676T>G (p.Ser1226Ala) rs202072752
NM_001999.4(FBN2):c.3752G>A (p.Gly1251Glu) rs767644891
NM_001999.4(FBN2):c.3878T>C (p.Ile1293Thr) rs1750804361
NM_001999.4(FBN2):c.4110G>A (p.Glu1370=) rs1205541313
NM_001999.4(FBN2):c.4444C>T (p.Pro1482Ser) rs1022830212
NM_001999.4(FBN2):c.4824C>T (p.Cys1608=) rs886059899
NM_001999.4(FBN2):c.4863C>G (p.Cys1621Trp) rs1420949011
NM_001999.4(FBN2):c.4864C>G (p.Pro1622Ala) rs750116860
NM_001999.4(FBN2):c.5280G>T (p.Arg1760Ser) rs886059898
NM_001999.4(FBN2):c.5281A>T (p.Met1761Leu) rs886059897
NM_001999.4(FBN2):c.5617dup (p.Ser1873fs) rs1561760194
NM_001999.4(FBN2):c.6167-4G>A rs370981323
NM_001999.4(FBN2):c.6228A>G (p.Pro2076=) rs1749324052
NM_001999.4(FBN2):c.6262G>T (p.Val2088Leu) rs893616190
NM_001999.4(FBN2):c.645G>T (p.Pro215=) rs764473594
NM_001999.4(FBN2):c.6560G>C (p.Cys2187Ser) rs1471927589
NM_001999.4(FBN2):c.6583C>T (p.Arg2195Cys) rs886059896
NM_001999.4(FBN2):c.6591A>G (p.Glu2197=) rs886059895
NM_001999.4(FBN2):c.6700A>G (p.Ser2234Gly) rs1749221516
NM_001999.4(FBN2):c.6758-11C>T rs1749187127
NM_001999.4(FBN2):c.6880+8C>T rs1749181973
NM_001999.4(FBN2):c.7138G>A (p.Asp2380Asn) rs886059893
NM_001999.4(FBN2):c.7582A>C (p.Lys2528Gln) rs894902794
NM_001999.4(FBN2):c.764C>T (p.Pro255Leu) rs886059903
NM_001999.4(FBN2):c.7897G>A (p.Gly2633Ser) rs886059892
NM_001999.4(FBN2):c.8212G>A (p.Gly2738Arg) rs1764985607
NM_001999.4(FBN2):c.8283A>G (p.Ala2761=) rs1764983104
NM_001999.4(FBN2):c.82G>C (p.Gly28Arg) rs772841538
NM_001999.4(FBN2):c.8309A>G (p.Tyr2770Cys) rs546129957
NM_001999.4(FBN2):c.835G>A (p.Glu279Lys) rs2127056955
NM_001999.4(FBN2):c.8365-13G>A rs779409691
NM_001999.4(FBN2):c.8541C>G (p.Ile2847Met) rs62374973
NM_001999.4(FBN2):c.8552A>G (p.Asn2851Ser) rs886059891
NM_001999.4(FBN2):c.8729A>G (p.Gln2910Arg) rs1764904392
NM_001999.4(FBN2):c.872A>C (p.Asn291Thr) rs1754069147

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.