ClinVar Miner

List of variants studied for cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

Included ClinVar conditions (1):
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Total variants: 130
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HGVS dbSNP gnomAD frequency
NM_001042545.2(LTBP4):c.379G>A (p.Val127Ile) rs2303729 0.50929
NM_001042545.2(LTBP4):c.3687C>T (p.Asp1229=) rs7367 0.50292
NM_001042545.2(LTBP4):c.2158A>G (p.Thr720Ala) rs1131620 0.47295
NM_001042545.2(LTBP4):c.2257A>G (p.Thr753Ala) rs1051303 0.47266
NM_001042545.2(LTBP4):c.3221C>T (p.Thr1074Met) rs10880 0.39072
NM_001042545.2(LTBP4):c.*20G>A rs1051481 0.17303
NM_003573.2(LTBP4):c.2144-11C>A rs41470347 0.05552
NM_001042545.2(LTBP4):c.1300T>A (p.Ser434Thr) rs34545902 0.04499
NM_001042545.2(LTBP4):c.1702C>G (p.Arg568Gly) rs33937741 0.02986
NM_001042545.2(LTBP4):c.1834C>G (p.Pro612Ala) rs34299942 0.02447
NM_001042545.2(LTBP4):c.1125G>A (p.Arg375=) rs41354044 0.01103
NM_001042545.2(LTBP4):c.2175C>T (p.Cys725=) rs141810975 0.00961
NM_001042545.2(LTBP4):c.1968C>T (p.Pro656=) rs140927310 0.00894
NM_001042545.2(LTBP4):c.2812+6C>T rs190107102 0.00874
NM_001042545.2(LTBP4):c.2053G>A (p.Asp685Asn) rs34093919 0.00763
NM_001042545.2(LTBP4):c.1441A>G (p.Met481Val) rs116005784 0.00542
NM_001042545.2(LTBP4):c.891C>T (p.Gly297=) rs374427407 0.00535
NM_003573.2(LTBP4):c.2389+9A>G rs73544980 0.00471
NM_003573.2(LTBP4):c.79C>T (p.Leu27=) rs370696272 0.00357
NM_001042545.2(LTBP4):c.1238G>A (p.Gly413Asp) rs114749335 0.00315
NM_001042545.2(LTBP4):c.1491G>T (p.Arg497=) rs117273116 0.00290
NM_001042545.2(LTBP4):c.2451G>A (p.Glu817=) rs191216887 0.00282
NM_001042545.2(LTBP4):c.2909C>G (p.Pro970Arg) rs200667255 0.00135
NM_001042545.2(LTBP4):c.858G>A (p.Gly286=) rs146234365 0.00128
NM_001042545.2(LTBP4):c.2436G>A (p.Val812=) rs371083223 0.00090
NM_001042545.2(LTBP4):c.2681-10C>G rs200914063 0.00084
NM_001042545.2(LTBP4):c.1324C>T (p.Arg442Cys) rs199875504 0.00071
NM_001042545.2(LTBP4):c.1825A>G (p.Thr609Ala) rs201279198 0.00069
NM_001042545.2(LTBP4):c.2235G>A (p.Ser745=) rs374862225 0.00057
NM_001042545.2(LTBP4):c.2238C>T (p.Pro746=) rs201588216 0.00055
NM_001042545.2(LTBP4):c.1882C>T (p.Arg628Cys) rs200338042 0.00051
NM_001042545.2(LTBP4):c.284T>C (p.Val95Ala) rs200888669 0.00038
NM_001042545.2(LTBP4):c.4604G>A (p.Cys1535Tyr) rs200665923 0.00034
NM_001042545.2(LTBP4):c.*121C>G rs551134075 0.00031
NM_001042545.2(LTBP4):c.2431+11T>C rs370485510 0.00014
NM_001042545.2(LTBP4):c.3478G>A (p.Glu1160Lys) rs778595954 0.00014
NM_001042545.2(LTBP4):c.2176G>C (p.Glu726Gln) rs199691160 0.00013
NM_003573.2(LTBP4):c.254del (p.Leu85fs) rs747013505 0.00010
NM_001042545.2(LTBP4):c.443-14C>T rs375934176 0.00009
NM_001042545.2(LTBP4):c.1217G>A (p.Arg406His) rs574587568 0.00008
NM_001042545.2(LTBP4):c.698C>T (p.Ser233Phe) rs886054445 0.00008
NM_001042545.2(LTBP4):c.2157C>G (p.Asn719Lys) rs770079010 0.00006
NM_001042545.2(LTBP4):c.3446G>C (p.Ser1149Thr) rs375879929 0.00006
NM_001042545.2(LTBP4):c.1953G>A (p.Pro651=) rs371903094 0.00005
NM_001042545.2(LTBP4):c.1041C>G (p.Arg347=) rs1213927843 0.00004
NM_001042545.2(LTBP4):c.1161T>C (p.Gly387=) rs554968375 0.00004
NM_001042545.2(LTBP4):c.2934C>T (p.Gly978=) rs768587659 0.00004
NM_001042545.2(LTBP4):c.3368C>T (p.Pro1123Leu) rs369221693 0.00004
NM_001042545.2(LTBP4):c.4024G>A (p.Ala1342Thr) rs370362292 0.00004
NM_003573.2(LTBP4):c.172C>T (p.Pro58Ser) rs373445028 0.00004
NM_003573.2(LTBP4):c.194G>A (p.Arg65Lys) rs200951126 0.00004
NM_001042545.2(LTBP4):c.2098C>T (p.Arg700Trp) rs758290097 0.00003
NM_001042545.2(LTBP4):c.2557+10C>T rs547405457 0.00003
NM_001042545.2(LTBP4):c.639C>T (p.Tyr213=) rs746458434 0.00003
NM_001042545.2(LTBP4):c.1020G>A (p.Gly340=) rs543717406 0.00002
NM_003573.2(LTBP4):c.310C>G (p.Pro104Ala) rs886054444 0.00002
NM_001042545.2(LTBP4):c.*25C>T rs1284761820 0.00001
NM_001042545.2(LTBP4):c.1252C>T (p.Arg418Ter) rs397515430 0.00001
NM_001042545.2(LTBP4):c.1452C>G (p.Arg484=) rs745624027 0.00001
NM_001042545.2(LTBP4):c.1835C>T (p.Pro612Leu) rs886054447 0.00001
NM_001042545.2(LTBP4):c.2739C>T (p.Asn913=) rs2303726 0.00001
NM_001042545.2(LTBP4):c.302G>A (p.Arg101His) rs762286016 0.00001
NM_001042545.2(LTBP4):c.371C>G (p.Ala124Gly) rs562892147 0.00001
NM_001042545.2(LTBP4):c.4019C>T (p.Pro1340Leu) rs531174154 0.00001
NM_001042545.2(LTBP4):c.4184G>A (p.Arg1395Gln) rs1032506558 0.00001
NM_001042545.2(LTBP4):c.517G>T (p.Val173Leu) rs755035387 0.00001
NM_001042545.2(LTBP4):c.634G>A (p.Gly212Ser) rs771378692 0.00001
NM_001042545.2(LTBP4):c.827C>T (p.Pro276Leu) rs760578075 0.00001
NM_001042545.2(LTBP4):c.864C>T (p.Cys288=) rs758784148 0.00001
NM_003573.2(LTBP4):c.76-1G>A rs781735457 0.00001
NM_001042544.1:c.3885_3893del
NM_001042545.2(LTBP4):c.*125C>T rs569370832
NM_001042545.2(LTBP4):c.*126G>T rs567854760
NM_001042545.2(LTBP4):c.*185_*187del rs558641472
NM_001042545.2(LTBP4):c.*259C>G rs868829972
NM_001042545.2(LTBP4):c.*42G>A rs2081663869
NM_001042545.2(LTBP4):c.*59C>T rs1362204630
NM_001042545.2(LTBP4):c.*86C>T rs10424186
NM_001042545.2(LTBP4):c.*97G>T rs1242020458
NM_001042545.2(LTBP4):c.1045G>C (p.Gly349Arg)
NM_001042545.2(LTBP4):c.113del (p.Pro38fs)
NM_001042545.2(LTBP4):c.1183G>T (p.Gly395Cys)
NM_001042545.2(LTBP4):c.1307-2A>G rs970983655
NM_001042545.2(LTBP4):c.1360del (p.Arg454fs) rs1307726290
NM_001042545.2(LTBP4):c.1549C>A (p.Arg517=) rs770158909
NM_001042545.2(LTBP4):c.1611G>C (p.Glu537Asp)
NM_001042545.2(LTBP4):c.1636G>A (p.Val546Met) rs886054446
NM_001042545.2(LTBP4):c.1828C>T (p.Gln610Ter) rs1568406407
NM_001042545.2(LTBP4):c.2029C>T (p.Arg677Ter) rs2146029786
NM_001042545.2(LTBP4):c.2160T>C (p.Thr720=) rs578204135
NM_001042545.2(LTBP4):c.2180-3C>A rs560687578
NM_001042545.2(LTBP4):c.2399G>A (p.Arg800Gln)
NM_001042545.2(LTBP4):c.2419G>C (p.Gly807Arg) rs559350666
NM_001042545.2(LTBP4):c.2481C>A (p.Cys827Ter) rs267607228
NM_001042545.2(LTBP4):c.2565C>T (p.Asp855=) rs2077407
NM_001042545.2(LTBP4):c.2835T>C (p.Tyr945=) rs762043638
NM_001042545.2(LTBP4):c.283G>A (p.Val95Met)
NM_001042545.2(LTBP4):c.289G>A (p.Val97Met)
NM_001042545.2(LTBP4):c.289G>C (p.Val97Leu) rs544671195
NM_001042545.2(LTBP4):c.3035dup (p.Tyr1013fs) rs59030801
NM_001042545.2(LTBP4):c.3298C>T (p.Arg1100Ter)
NM_001042545.2(LTBP4):c.3329G>A (p.Gly1110Glu) rs886054448
NM_001042545.2(LTBP4):c.3464del (p.Gln1155fs) rs606231159
NM_001042545.2(LTBP4):c.3850dup (p.Cys1284fs) rs1599879104
NM_001042545.2(LTBP4):c.4022C>G (p.Pro1341Arg) rs886054449
NM_001042545.2(LTBP4):c.4025dup (p.Tyr1343fs) rs797044471
NM_001042545.2(LTBP4):c.4033C>G (p.Pro1345Ala) rs886054450
NM_001042545.2(LTBP4):c.4037dup (p.Arg1347fs) rs606231161
NM_001042545.2(LTBP4):c.4039C>T (p.Arg1347Ter) rs1382026467
NM_001042545.2(LTBP4):c.4169G>A (p.Gly1390Glu) rs886054451
NM_001042545.2(LTBP4):c.4628C>T (p.Pro1543Leu)
NM_001042545.2(LTBP4):c.534G>A (p.Glu178=) rs2081452931
NM_001042545.2(LTBP4):c.564G>A (p.Ala188=) rs759941927
NM_001042545.2(LTBP4):c.565del (p.Glu189fs) rs2146020978
NM_001042545.2(LTBP4):c.5C>T (p.Ala2Val)
NM_001042545.2(LTBP4):c.608T>A (p.Leu203Ter)
NM_001042545.2(LTBP4):c.637T>C (p.Tyr213His)
NM_001042545.2(LTBP4):c.688G>T (p.Glu230Ter)
NM_001042545.2(LTBP4):c.701del (p.Pro234fs) rs606231160
NM_001042545.2(LTBP4):c.730T>G (p.Cys244Gly) rs267607229
NM_001042545.2(LTBP4):c.770G>A (p.Cys257Tyr) rs2146021507
NM_001042545.2(LTBP4):c.832C>G (p.Pro278Ala) rs2081460773
NM_001042545.2(LTBP4):c.999dup (p.Val334fs)
NM_003573.2(LTBP4):c.213C>A (p.Leu71=) rs886054443
NM_003573.2(LTBP4):c.230+2T>G rs2146012706
NM_003573.2(LTBP4):c.231-14C>G rs2081412659
NM_003573.2(LTBP4):c.239A>G (p.Glu80Gly)
NM_003573.2(LTBP4):c.273G>C (p.Arg91=) rs2081413206
NM_003573.2(LTBP4):c.334G>T (p.Ala112Ser) rs2081414000
NM_003573.2(LTBP4):c.76-2A>G

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