ClinVar Miner

List of variants studied for primary lymphedema by OMIM

Included ClinVar conditions (85):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 180
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HGVS dbSNP gnomAD frequency
NM_005424.5(TIE1):c.3326G>A (p.Arg1109His) rs34993202 0.00092
NM_005199.5(CHRNG):c.459dup (p.Val154fs) rs774279192 0.00048
NM_005199.5(CHRNG):c.753_754del (p.Val253fs) rs767503038 0.00026
NM_002435.3(MPI):c.656G>A (p.Arg219Gln) rs104894489 0.00021
NM_133459.4(CCBE1):c.472C>T (p.Arg158Cys) rs121908253 0.00019
NM_001291303.3(FAT4):c.12851C>T (p.Ser4284Phe) rs199682210 0.00013
NM_006767.4(LZTR1):c.628C>T (p.Arg210Ter) rs150419186 0.00010
NM_006767.4(LZTR1):c.1943-256C>T rs761685529 0.00009
NM_182925.5(FLT4):c.2563G>A (p.Ala855Thr) rs121909657 0.00009
NM_133459.4(CCBE1):c.223T>A (p.Cys75Ser) rs121908250 0.00007
NM_133459.4(CCBE1):c.683_684insT (p.Leu229fs) rs563023244 0.00007
NM_001142864.4(PIEZO1):c.6511G>T (p.Val2171Phe) rs370296725 0.00003
NM_001166345.3(MDFIC):c.732T>G (p.Phe244Leu) rs77149653 0.00003
NM_002435.3(MPI):c.305C>T (p.Ser102Leu) rs104894494 0.00003
NM_002435.3(MPI):c.884G>A (p.Arg295His) rs28928906 0.00003
NM_133459.4(CCBE1):c.520T>C (p.Cys174Arg) rs121908254 0.00002
NM_001142864.4(PIEZO1):c.3796+1G>A rs869025599 0.00001
NM_001142864.4(PIEZO1):c.7289C>T (p.Pro2430Leu) rs869025601 0.00001
NM_002524.5(NRAS):c.179G>A (p.Gly60Glu) rs267606920 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_005199.5(CHRNG):c.136C>T (p.Arg46Ter) rs121912672 0.00001
NM_005199.5(CHRNG):c.1408C>T (p.Arg470Ter) rs121912671 0.00001
NM_005199.5(CHRNG):c.428C>G (p.Pro143Arg) rs765746795 0.00001
NM_005199.5(CHRNG):c.715C>T (p.Arg239Cys) rs121912670 0.00001
NM_005424.5(TIE1):c.1441C>T (p.Arg481Cys) rs139244400 0.00001
NM_006767.4(LZTR1):c.2220-17C>A rs1249726034 0.00001
NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys) rs797045165 0.00001
NM_012250.6(RRAS2):c.208G>A (p.Ala70Thr) rs782457908 0.00001
NM_014243.3(ADAMTS3):c.280C>T (p.Arg94Ter) rs747975445 0.00001
NM_014243.3(ADAMTS3):c.503T>C (p.Leu168Pro) rs1177851177 0.00001
NM_018419.3(SOX18):c.310G>C (p.Ala104Pro) rs28936692 0.00001
NM_181784.3(SPRED2):c.187C>T (p.Arg63Ter) rs780902942 0.00001
NC_000008.11:g.(?_6499632)_(6563245_?)del
NM_001085049.3(MRAS):c.203C>T (p.Thr68Ile) rs1576387876
NM_001085049.3(MRAS):c.212A>G (p.Gln71Arg) rs1576387885
NM_001085049.3(MRAS):c.68G>T (p.Gly23Val) rs1576359216
NM_001118887.2(ANGPT2):c.1301G>C (p.Cys434Ser) rs2129565840
NM_001118887.2(ANGPT2):c.893C>T (p.Thr298Met) rs61733318
NM_001142864.4(PIEZO1):c.1669+1G>A rs869025600
NM_001142864.4(PIEZO1):c.2263G>T (p.Glu755Ter) rs869025596
NM_001142864.4(PIEZO1):c.4888G>T (p.Glu1630Ter) rs869025597
NM_001142864.4(PIEZO1):c.6682C>T (p.Gln2228Ter) rs869025598
NM_001166345.3(MDFIC):c.187G>T (p.Gly63Ter) rs753720421
NM_001166345.3(MDFIC):c.371del (p.Leu123_Ser124insTer) rs2115961148
NM_001166345.3(MDFIC):c.391dup (p.Met131fs) rs562142736
NM_001291303.3(FAT4):c.1195del (p.Leu399fs) rs587777725
NM_001291303.3(FAT4):c.7035TGGAAC[3] (p.2346GT[3]) rs587777724
NM_001291303.3(FAT4):c.7123G>A (p.Glu2375Lys) rs398122955
NM_001291303.3(FAT4):c.7204A>C (p.Arg2402=) rs587777726
NM_001378328.1(CELSR1):c.5121dup (p.Ile1708fs) rs2147324428
NM_001378328.1(CELSR1):c.5226+2T>A rs1569141899
NM_001378328.1(CELSR1):c.5871G>A (p.Trp1957Ter) rs2147265140
NM_001378328.1(CELSR1):c.6739+1G>A rs1569124017
NM_001378328.1(CELSR1):c.868G>T (p.Glu290Ter) rs1569227576
NM_002435.3(MPI):c.166dup (p.Arg56fs) rs786204593
NM_002435.3(MPI):c.413T>C (p.Met138Thr) rs104894495
NM_002524.5(NRAS):c.149C>T (p.Thr50Ile) rs267606921
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) rs121434596
NM_002745.5(MAPK1):c.221T>A (p.Ile74Asn) rs2069154121
NM_002745.5(MAPK1):c.521C>T (p.Ala174Val) rs2069052012
NM_002745.5(MAPK1):c.952G>A (p.Asp318Asn) rs2068716940
NM_002745.5(MAPK1):c.953A>G (p.Asp318Gly) rs2068716907
NM_002834.5(PTPN11):c.1232C>T (p.Thr411Met) rs121918467
NM_002834.5(PTPN11):c.1504T>A (p.Ser502Thr) rs121918458
NM_002834.5(PTPN11):c.1529A>G (p.Gln510Arg) rs121918470
NM_002834.5(PTPN11):c.179_181del (p.Gly60del) rs80338836
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) rs121918461
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp) rs121918460
NM_002834.5(PTPN11):c.214G>T (p.Ala72Ser) rs121918453
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) rs121918454
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) rs121918462
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) rs267606990
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser) rs121918463
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_002880.4(RAF1):c.1472C>G (p.Thr491Arg) rs80338799
NM_002880.4(RAF1):c.1837C>G (p.Leu613Val) rs80338797
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_002880.4(RAF1):c.781C>T (p.Pro261Ser) rs121434594
NM_004333.6(BRAF):c.1593G>C (p.Trp531Cys) rs606231228
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val) rs121913369
NM_004333.6(BRAF):c.722C>G (p.Thr241Arg) rs387906660
NM_004333.6(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_004444.5(EPHB4):c.2216G>A (p.Arg739Gln) rs1057519263
NM_004444.5(EPHB4):c.2334+1G>C rs1562967463
NM_004444.5(EPHB4):c.2345T>G (p.Ile782Ser) rs1057519264
NM_004523.4(KIF11):c.1039_1040del (p.Leu347fs) rs730882061
NM_004523.4(KIF11):c.1159C>T (p.Arg387Ter) rs387906641
NM_004523.4(KIF11):c.1408G>T (p.Glu470Ter) rs786205900
NM_004523.4(KIF11):c.1592del (p.Gln531fs) rs730882062
NM_004523.4(KIF11):c.2230C>T (p.Gln744Ter) rs1554862427
NM_004523.4(KIF11):c.2300_2301del (p.Phe767fs) rs730882121
NM_004523.4(KIF11):c.2547+2T>C rs730882063
NM_004523.4(KIF11):c.2830C>T (p.Arg944Cys) rs387906642
NM_004523.4(KIF11):c.704C>G (p.Ser235Cys) rs387906643
NM_004523.4(KIF11):c.790-1G>A rs730882122
NM_004523.4(KIF11):c.790-1G>T rs730882122
NM_004985.5(KRAS):c.13A>G (p.Lys5Glu) rs193929331
NM_004985.5(KRAS):c.173C>T (p.Thr58Ile) rs104894364
NM_004985.5(KRAS):c.40G>A (p.Val14Ile) rs104894365
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) rs104894360
NM_005045.4(RELN):c.5530-1G>A rs2117170464
NM_005045.4(RELN):c.8844-2A>G
NM_005045.4:c.6524_6671del
NM_005199.5(CHRNG):c.13C>T (p.Gln5Ter) rs267606725
NM_005199.5(CHRNG):c.301_309dup (p.Arg101_Pro103dup) rs863223313
NM_005199.5(CHRNG):c.320T>G (p.Val107Gly) rs267606726
NM_005251.3(FOXC2):c.1090_1093dup (p.Pro365fs) rs1567571702
NM_005251.3(FOXC2):c.1205C>T (p.Pro402Leu) rs1567571823
NM_005251.3(FOXC2):c.122A>T (p.Tyr41Phe) rs1043354227
NM_005251.3(FOXC2):c.1258C>T (p.Gln420Ter) rs1567571863
NM_005251.3(FOXC2):c.1331del (p.Gln444fs) rs1597403198
NM_005251.3(FOXC2):c.200_201dup (p.Lys68fs) rs1567571065
NM_005251.3(FOXC2):c.209dup (p.Val71fs) rs1567571075
NM_005251.3(FOXC2):c.290_300del (p.Gly97fs) rs1567571141
NM_005251.3(FOXC2):c.297C>G (p.Tyr99Ter) rs104894516
NM_005251.3(FOXC2):c.361C>T (p.Arg121Cys) rs1567571184
NM_005251.3(FOXC2):c.362G>A (p.Arg121His) rs121909107
NM_005251.3(FOXC2):c.374C>T (p.Ser125Leu) rs121909106
NM_005251.3(FOXC2):c.509del (p.Lys170fs) rs1567571276
NM_005251.3(FOXC2):c.588dup (p.Thr197fs) rs1567571345
NM_005251.3(FOXC2):c.602_681delinsACAAA (p.Ala201_Thr226delinsAsp) rs1567571360
NM_005251.3(FOXC2):c.914_921del (p.Tyr305fs) rs1567571564
NM_005429.5(VEGFC):c.571_572insTT (p.Pro191fs) rs587777566
NM_005429.5(VEGFC):c.628C>T (p.Arg210Ter) rs587777567
NM_005633.4(SOS1):c.1294T>C (p.Trp432Arg) rs267607080
NM_005633.4(SOS1):c.1654A>G (p.Arg552Gly) rs137852814
NM_005633.4(SOS1):c.1656G>C (p.Arg552Ser) rs267607079
NM_005633.4(SOS1):c.3134C>G (p.Pro1045Arg) rs1668859370
NM_005633.4(SOS1):c.797C>A (p.Thr266Lys) rs137852812
NM_005633.4(SOS1):c.806T>G (p.Met269Arg) rs137852813
NM_005795.6(CALCRL):c.611TAG[1] (p.Val205del) rs1574226259
NM_006767.4(LZTR1):c.2264G>A (p.Arg755Gln) rs762834512
NM_006767.4(LZTR1):c.361C>G (p.His121Asp) rs1569154492
NM_006767.4(LZTR1):c.740G>A (p.Ser247Asn) rs797045166
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly) rs672601334
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly) rs869025193
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu) rs730881014
NM_006912.6(RIT1):c.270G>C (p.Met90Ile) rs483352822
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala) rs672601335
NM_006939.4(SOS2):c.1127C>G (p.Thr376Ser) rs869320687
NM_006939.4(SOS2):c.800T>A (p.Met267Lys) rs797045167
NM_012250.6(RRAS2):c.215A>T (p.Gln72Leu) rs113954997
NM_012250.6(RRAS2):c.70_78dup (p.Gly24_Gly26dup) rs1591495767
NM_014243.3(ADAMTS3):c.872T>C (p.Ile291Thr) rs61757480
NM_018419.3(SOX18):c.283T>A (p.Trp95Arg) rs28936693
NM_018419.3(SOX18):c.481C>T (p.Gln161Ter) rs794728015
NM_018419.3(SOX18):c.720C>A (p.Cys240Ter) rs74315430
NM_018676.4(THSD1):c.1322_1329del (p.Arg441fs)
NM_018676.4(THSD1):c.1561C>T (p.Gln521Ter)
NM_018676.4(THSD1):c.617G>A (p.Cys206Tyr) rs786205669
NM_018676.4(THSD1):c.670C>T (p.Arg224Ter) rs9536062
NM_020435.4(GJC2):c.143C>T (p.Ser48Leu) rs267606847
NM_020435.4(GJC2):c.778C>T (p.Arg260Cys) rs267606846
NM_032638.5(GATA2):c.1009C>T (p.Arg337Ter) rs387906632
NM_032638.5(GATA2):c.1082G>T (p.Arg361Leu) rs387906634
NM_032638.5(GATA2):c.1117T>C (p.Cys373Arg) rs387906633
NM_032638.5(GATA2):c.232dup (p.Arg78fs) rs1576749301
NM_032638.5(GATA2):c.312_313dup (p.Leu105fs) rs1576749168
NM_033360.4(KRAS):c.*9T>G rs104894367
NM_033360.4(KRAS):c.178G>A (p.Gly60Ser) rs104894359
NM_133459.4(CCBE1):c.305G>C (p.Cys102Ser) rs121908251
NM_133459.4(CCBE1):c.979G>C (p.Gly327Arg) rs121908252
NM_181784.3(SPRED2):c.1142_1143del (p.Leu381fs) rs2104102138
NM_181784.3(SPRED2):c.299T>C (p.Leu100Pro) rs2104216988
NM_182918.4(ERG):c.1388del (p.Asn463fs)
NM_182918.4(ERG):c.543del (p.Ser182fs)
NM_182918.4(ERG):c.671_672del (p.Thr224fs)
NM_182925.5(FLT4):c.2569G>A (p.Gly857Arg) rs267606818
NM_182925.5(FLT4):c.2632G>A (p.Val878Met) rs121909654
NM_182925.5(FLT4):c.3104A>G (p.His1035Arg) rs121909653
NM_182925.5(FLT4):c.3122G>C (p.Arg1041Pro) rs121909650
NM_182925.5(FLT4):c.3131T>C (p.Leu1044Pro) rs121909651
NM_182925.5(FLT4):c.3257T>C (p.Ile1086Thr) rs121909655
NM_182925.5(FLT4):c.3316G>A (p.Glu1106Lys) rs121909656
NM_182925.5(FLT4):c.3320TCT[1] (p.Phe1108del) rs587776833
NM_182925.5(FLT4):c.3341C>T (p.Pro1114Leu) rs121909652

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