ClinVar Miner

List of variants in gene EFEMP2 reported as uncertain significance for cutis laxa

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 128
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HGVS dbSNP gnomAD frequency
NM_016938.5(EFEMP2):c.-113C>T rs188624478 0.02060
NM_016938.5(EFEMP2):c.139C>T (p.Pro47Ser) rs144320036 0.00104
NM_016938.5(EFEMP2):c.934A>G (p.Thr312Ala) rs148410446 0.00085
NM_016938.5(EFEMP2):c.99C>T (p.Pro33=) rs140946753 0.00045
NM_016938.5(EFEMP2):c.728-3C>T rs377139656 0.00041
NM_016938.5(EFEMP2):c.259G>A (p.Val87Ile) rs149525720 0.00037
NM_016938.5(EFEMP2):c.-13G>A rs886048507 0.00036
NM_016938.5(EFEMP2):c.409A>T (p.Ser137Cys) rs1306393544 0.00022
NM_016938.5(EFEMP2):c.977G>A (p.Arg326His) rs141868759 0.00019
NM_016938.5(EFEMP2):c.885C>T (p.Ser295=) rs142509316 0.00016
NM_016938.5(EFEMP2):c.422A>T (p.His141Leu) rs148315164 0.00015
NM_016938.5(EFEMP2):c.1065C>A (p.Ser355Arg) rs377646143 0.00011
NM_016938.5(EFEMP2):c.290C>T (p.Pro97Leu) rs779247685 0.00006
NM_016938.5(EFEMP2):c.363T>C (p.Cys121=) rs746343857 0.00006
NM_016938.5(EFEMP2):c.506G>A (p.Arg169His) rs141310608 0.00006
NM_016938.5(EFEMP2):c.628G>A (p.Gly210Arg) rs546162289 0.00006
NM_016938.5(EFEMP2):c.161-6C>G rs773745810 0.00005
NM_016938.5(EFEMP2):c.874C>T (p.His292Tyr) rs532989312 0.00005
NM_016938.5(EFEMP2):c.209A>G (p.Lys70Arg) rs373922246 0.00004
NM_016938.5(EFEMP2):c.280G>A (p.Glu94Lys) rs370848091 0.00004
NM_016938.5(EFEMP2):c.346G>A (p.Asp116Asn) rs370759216 0.00004
NM_016938.5(EFEMP2):c.922C>T (p.Arg308Cys) rs781700061 0.00004
NM_016938.5(EFEMP2):c.1010G>A (p.Arg337Gln) rs755197148 0.00003
NM_016938.5(EFEMP2):c.1170+3A>G rs771815109 0.00003
NM_016938.5(EFEMP2):c.433G>A (p.Gly145Ser) rs369601362 0.00003
NM_016938.5(EFEMP2):c.565G>A (p.Glu189Lys) rs148940436 0.00003
NM_016938.5(EFEMP2):c.1016A>T (p.Gln339Leu) rs754118526 0.00002
NM_016938.5(EFEMP2):c.1037G>A (p.Arg346His) rs760786490 0.00002
NM_016938.5(EFEMP2):c.151C>T (p.His51Tyr) rs1307880504 0.00002
NM_016938.5(EFEMP2):c.158G>A (p.Arg53Gln) rs372018326 0.00002
NM_016938.5(EFEMP2):c.167A>G (p.Asn56Ser) rs768570882 0.00002
NM_016938.5(EFEMP2):c.279C>T (p.Gly93=) rs769750626 0.00002
NM_016938.5(EFEMP2):c.304C>T (p.Pro102Ser) rs756704201 0.00002
NM_016938.5(EFEMP2):c.338A>G (p.Tyr113Cys) rs1394549414 0.00002
NM_016938.5(EFEMP2):c.554G>A (p.Arg185His) rs143662598 0.00002
NM_016938.5(EFEMP2):c.626T>C (p.Met209Thr) rs778873365 0.00002
NM_016938.5(EFEMP2):c.724A>G (p.Ser242Gly) rs373202527 0.00002
NM_016938.5(EFEMP2):c.791G>A (p.Arg264His) rs749794461 0.00002
NM_016938.5(EFEMP2):c.872C>T (p.Ala291Val) rs753778921 0.00002
NM_016938.5(EFEMP2):c.941G>A (p.Arg314His) rs760501413 0.00002
NM_016938.5(EFEMP2):c.-10C>T rs1859987394 0.00001
NM_016938.5(EFEMP2):c.1061G>A (p.Arg354Gln) rs138210467 0.00001
NM_016938.5(EFEMP2):c.1094C>T (p.Ala365Val) rs768004972 0.00001
NM_016938.5(EFEMP2):c.1105T>C (p.Tyr369His) rs373485109 0.00001
NM_016938.5(EFEMP2):c.110C>T (p.Thr37Met) rs921412303 0.00001
NM_016938.5(EFEMP2):c.1111G>A (p.Gly371Ser) rs1294797610 0.00001
NM_016938.5(EFEMP2):c.146G>C (p.Ser49Thr) rs1468378128 0.00001
NM_016938.5(EFEMP2):c.19T>G (p.Cys7Gly) rs1344778966 0.00001
NM_016938.5(EFEMP2):c.253G>A (p.Ala85Thr) rs148604051 0.00001
NM_016938.5(EFEMP2):c.286C>T (p.Pro96Ser) rs141721562 0.00001
NM_016938.5(EFEMP2):c.307G>A (p.Ala103Thr) rs1008465800 0.00001
NM_016938.5(EFEMP2):c.321C>A (p.Asn107Lys) rs762409753 0.00001
NM_016938.5(EFEMP2):c.349G>A (p.Asp117Asn) rs749326725 0.00001
NM_016938.5(EFEMP2):c.460G>A (p.Gly154Ser) rs377199919 0.00001
NM_016938.5(EFEMP2):c.475G>A (p.Gly159Arg) rs1248173748 0.00001
NM_016938.5(EFEMP2):c.496G>A (p.Asp166Asn) rs145037272 0.00001
NM_016938.5(EFEMP2):c.505C>T (p.Arg169Cys) rs762712612 0.00001
NM_016938.5(EFEMP2):c.541C>T (p.Pro181Ser) rs1351534292 0.00001
NM_016938.5(EFEMP2):c.557G>C (p.Cys186Ser) rs1361657266 0.00001
NM_016938.5(EFEMP2):c.579G>C (p.Gln193His) rs1565273832 0.00001
NM_016938.5(EFEMP2):c.595C>T (p.Arg199Cys) rs766531680 0.00001
NM_016938.5(EFEMP2):c.639C>T (p.Cys213=) rs199606204 0.00001
NM_016938.5(EFEMP2):c.677G>A (p.Cys226Tyr) rs760244280 0.00001
NM_016938.5(EFEMP2):c.836G>A (p.Arg279His) rs756905509 0.00001
NM_016938.5(EFEMP2):c.928G>A (p.Val310Met) rs544423133 0.00001
NM_016938.5(EFEMP2):c.96G>T (p.Glu32Asp) rs1011011078 0.00001
NM_016938.5(EFEMP2):c.97C>G (p.Pro33Ala) rs1161566620 0.00001
NM_016938.5(EFEMP2):c.989C>T (p.Pro330Leu) rs781029572 0.00001
NC_000011.9:g.(?_65634389)_(65639825_?)dup
NM_016938.5(EFEMP2):c.100G>A (p.Asp34Asn)
NM_016938.5(EFEMP2):c.1060C>T (p.Arg354Trp)
NM_016938.5(EFEMP2):c.111+4_111+12del rs2134753586
NM_016938.5(EFEMP2):c.1110C>A (p.Pro370=) rs146180527
NM_016938.5(EFEMP2):c.1123G>C (p.Ala375Pro)
NM_016938.5(EFEMP2):c.1156G>A (p.Asp386Asn)
NM_016938.5(EFEMP2):c.1156G>C (p.Asp386His) rs777806636
NM_016938.5(EFEMP2):c.1162T>C (p.Tyr388His)
NM_016938.5(EFEMP2):c.1165A>C (p.Ile389Leu)
NM_016938.5(EFEMP2):c.1170+1G>A rs1859884792
NM_016938.5(EFEMP2):c.157C>T (p.Arg53Trp) rs936904481
NM_016938.5(EFEMP2):c.160G>T (p.Asp54Tyr) rs886048506
NM_016938.5(EFEMP2):c.164T>A (p.Val55Asp) rs2134752336
NM_016938.5(EFEMP2):c.215T>C (p.Ile72Thr) rs1859961874
NM_016938.5(EFEMP2):c.236T>G (p.Leu79Trp) rs1591067819
NM_016938.5(EFEMP2):c.248G>A (p.Arg83His) rs1281626120
NM_016938.5(EFEMP2):c.268G>A (p.Asp90Asn) rs1859960797
NM_016938.5(EFEMP2):c.296C>T (p.Pro99Leu) rs780659504
NM_016938.5(EFEMP2):c.305C>T (p.Pro102Leu)
NM_016938.5(EFEMP2):c.316C>A (p.Pro106Thr)
NM_016938.5(EFEMP2):c.321C>T (p.Asn107=) rs762409753
NM_016938.5(EFEMP2):c.32C>G (p.Ser11Cys) rs2134753788
NM_016938.5(EFEMP2):c.348C>A (p.Asp116Glu) rs376350227
NM_016938.5(EFEMP2):c.355G>A (p.Asp119Asn) rs756326099
NM_016938.5(EFEMP2):c.397G>A (p.Asp133Asn) rs766172211
NM_016938.5(EFEMP2):c.404G>A (p.Arg135His) rs773352910
NM_016938.5(EFEMP2):c.421C>T (p.His141Tyr)
NM_016938.5(EFEMP2):c.437_439del (p.Ser146del) rs2134751198
NM_016938.5(EFEMP2):c.455C>A (p.Pro152His)
NM_016938.5(EFEMP2):c.481G>C (p.Glu161Gln)
NM_016938.5(EFEMP2):c.491-13C>G
NM_016938.5(EFEMP2):c.491-5C>G rs749980581
NM_016938.5(EFEMP2):c.493A>G (p.Ile165Val) rs1859941615
NM_016938.5(EFEMP2):c.527G>A (p.Arg176His) rs772504760
NM_016938.5(EFEMP2):c.535A>G (p.Asn179Asp)
NM_016938.5(EFEMP2):c.553C>T (p.Arg185Cys)
NM_016938.5(EFEMP2):c.608-5_608-4delinsAG
NM_016938.5(EFEMP2):c.616G>A (p.Glu206Lys) rs1450189245
NM_016938.5(EFEMP2):c.627G>A (p.Met209Ile)
NM_016938.5(EFEMP2):c.63C>T (p.Leu21=) rs1442174846
NM_016938.5(EFEMP2):c.640G>A (p.Glu214Lys)
NM_016938.5(EFEMP2):c.667A>T (p.Thr223Ser)
NM_016938.5(EFEMP2):c.668C>T (p.Thr223Ile)
NM_016938.5(EFEMP2):c.727+19C>G
NM_016938.5(EFEMP2):c.732TGA[1] (p.Asp245del)
NM_016938.5(EFEMP2):c.774_776delinsTGC (p.Ile259Ala) rs1859906581
NM_016938.5(EFEMP2):c.778_780del (p.Asn260del)
NM_016938.5(EFEMP2):c.7C>A (p.Pro3Thr) rs1436359315
NM_016938.5(EFEMP2):c.7C>T (p.Pro3Ser)
NM_016938.5(EFEMP2):c.851T>C (p.Ile284Thr) rs1859902632
NM_016938.5(EFEMP2):c.862G>C (p.Glu288Gln) rs752273286
NM_016938.5(EFEMP2):c.872C>G (p.Ala291Gly) rs753778921
NM_016938.5(EFEMP2):c.905A>G (p.Asn302Ser) rs769829583
NM_016938.5(EFEMP2):c.923G>A (p.Arg308His)
NM_016938.5(EFEMP2):c.931G>A (p.Asp311Asn) rs758052109
NM_016938.5(EFEMP2):c.933_950dup (p.Val316_Glu317insAspThrAsnArgCysVal)
NM_016938.5(EFEMP2):c.946G>T (p.Val316Leu) rs113167523
NM_016938.5(EFEMP2):c.964G>T (p.Val322Phe) rs759573856
NM_016938.5(EFEMP2):c.975-5T>G

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