ClinVar Miner

List of variants in gene LRP4 studied for Cenani-Lenz syndactyly syndrome

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Gene type:
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Total variants: 172
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HGVS dbSNP gnomAD frequency
NM_002334.4(LRP4):c.1623T>C (p.Asp541=) rs10769215 0.99630
NM_002334.4(LRP4):c.1638A>G (p.Lys546=) rs10838631 0.98127
NM_002334.4(LRP4):c.*561T>C rs3829940 0.64017
NM_002334.4(LRP4):c.3256A>G (p.Ile1086Val) rs6485702 0.50674
NM_002334.4(LRP4):c.4660A>G (p.Ser1554Gly) rs2306029 0.42236
NM_002334.4(LRP4):c.4905C>T (p.Phe1635=) rs2290883 0.12958
NM_002334.4(LRP4):c.3608C>T (p.Ala1203Val) rs2306033 0.12951
NM_002334.4(LRP4):c.1309+24G>A rs3751097 0.08895
NM_002334.4(LRP4):c.941T>C (p.Leu314Ser) rs7926667 0.05542
NM_002334.4(LRP4):c.1695G>A (p.Glu565=) rs61741501 0.05533
NM_002334.4(LRP4):c.813G>A (p.Thr271=) rs879721 0.05245
NM_002334.4(LRP4):c.129C>G (p.Thr43=) rs61742974 0.04439
NM_002334.4(LRP4):c.*261C>A rs77376145 0.03985
NM_002334.4(LRP4):c.1501A>C (p.Asn501His) rs72897663 0.03190
NM_002334.4(LRP4):c.4837+10C>T rs74806847 0.02807
NM_002334.4(LRP4):c.*1825_*1826del rs147363340 0.02795
NM_002334.4(LRP4):c.*929C>A rs79910473 0.02450
NM_002334.4(LRP4):c.3945G>A (p.Ser1315=) rs61733844 0.02133
NM_002334.4(LRP4):c.*2104C>G rs7928628 0.02130
NM_002334.4(LRP4):c.5165T>A (p.Leu1722His) rs117936904 0.01806
NM_002334.4(LRP4):c.1117C>T (p.Arg373Trp) rs118009068 0.01699
NM_002334.4(LRP4):c.431-12G>A rs139371503 0.01289
NM_002334.4(LRP4):c.*1445A>G rs75558883 0.01226
NM_002334.4(LRP4):c.5010G>A (p.Val1670=) rs111426027 0.00936
NM_002334.4(LRP4):c.*54G>A rs147627264 0.00852
NM_002334.4(LRP4):c.*1017C>T rs10838623 0.00823
NM_002334.4(LRP4):c.997G>A (p.Gly333Arg) rs61744209 0.00677
NM_002334.4(LRP4):c.300G>A (p.Ser100=) rs61745166 0.00459
NM_002334.4(LRP4):c.3817C>A (p.Arg1273=) rs61746928 0.00385
NM_002334.4(LRP4):c.1551T>C (p.Ala517=) rs150777198 0.00307
NM_002334.4(LRP4):c.1494C>T (p.Asn498=) rs61749083 0.00221
NM_002334.4(LRP4):c.1048+7G>T rs148557097 0.00220
NM_002334.4(LRP4):c.*1151C>T rs116705878 0.00213
NM_002334.4(LRP4):c.1787A>G (p.His596Arg) rs138878258 0.00211
NM_002334.4(LRP4):c.*1627A>G rs544836196 0.00160
NM_002334.4(LRP4):c.*2054C>T rs151112380 0.00152
NM_002334.4(LRP4):c.4674C>T (p.His1558=) rs61742905 0.00127
NM_002334.4(LRP4):c.639C>T (p.Asp213=) rs144974139 0.00124
NM_002334.4(LRP4):c.5660C>G (p.Ser1887Cys) rs149082597 0.00111
NM_002334.4(LRP4):c.3064A>G (p.Asn1022Asp) rs61742871 0.00098
NM_002334.4(LRP4):c.3620A>G (p.Asn1207Ser) rs151234321 0.00086
NM_002334.4(LRP4):c.2868G>A (p.Glu956=) rs145460760 0.00076
NM_002334.4(LRP4):c.5520T>C (p.His1840=) rs144350829 0.00075
NM_002334.4(LRP4):c.676+13G>A rs200963011 0.00052
NM_002334.4(LRP4):c.5182A>G (p.Ile1728Val) rs148865136 0.00045
NM_002334.4(LRP4):c.3944C>T (p.Ser1315Leu) rs150681693 0.00042
NM_002334.4(LRP4):c.*1727G>A rs558730059 0.00034
NM_002334.4(LRP4):c.*921A>C rs771309941 0.00032
NM_002334.4(LRP4):c.4536A>T (p.Thr1512=) rs144169411 0.00031
NM_002334.4(LRP4):c.*2080T>C rs76159791 0.00028
NM_002334.4(LRP4):c.*379C>T rs561326679 0.00026
NM_002334.4(LRP4):c.1130A>G (p.Gln377Arg) rs139006210 0.00024
NM_002334.4(LRP4):c.378G>A (p.Leu126=) rs201749120 0.00022
NM_002334.4(LRP4):c.4923C>T (p.Asp1641=) rs150734530 0.00021
NM_002334.4(LRP4):c.1491C>T (p.Leu497=) rs146501212 0.00020
NM_002334.4(LRP4):c.3752C>T (p.Pro1251Leu) rs145422541 0.00020
NM_002334.4(LRP4):c.*1546C>T rs1420065241 0.00019
NM_002334.4(LRP4):c.539A>G (p.Glu180Gly) rs201957426 0.00019
NM_002334.4(LRP4):c.*2252G>A rs188545674 0.00016
NM_002334.4(LRP4):c.3429G>A (p.Thr1143=) rs137882536 0.00015
NM_002334.4(LRP4):c.1769G>A (p.Arg590His) rs149435615 0.00013
NM_002334.4(LRP4):c.4274G>A (p.Arg1425Gln) rs143444937 0.00011
NM_002334.4(LRP4):c.*242G>A rs890348934 0.00010
NM_002334.4(LRP4):c.*372G>A rs532378480 0.00009
NM_002334.4(LRP4):c.*609A>T rs547315814 0.00009
NM_002334.4(LRP4):c.2112C>T (p.Asp704=) rs140757594 0.00009
NM_002334.4(LRP4):c.3073G>C (p.Gly1025Arg) rs141565454 0.00009
NM_002334.4(LRP4):c.5650A>G (p.Arg1884Gly) rs377204138 0.00009
NM_002334.4(LRP4):c.282C>T (p.Asn94=) rs17848224 0.00008
NM_002334.4(LRP4):c.*1335G>A rs550964500 0.00007
NM_002334.4(LRP4):c.5054G>A (p.Arg1685Gln) rs138238230 0.00007
NM_002334.4(LRP4):c.2318G>A (p.Arg773His) rs374890595 0.00006
NM_002334.4(LRP4):c.4293C>T (p.Asp1431=) rs17848229 0.00006
NM_002334.4(LRP4):c.5513G>A (p.Arg1838Gln) rs770309253 0.00006
NM_002334.4(LRP4):c.826C>T (p.Arg276Cys) rs557300271 0.00006
NM_002334.4(LRP4):c.*104C>T rs536278440 0.00005
NM_002334.4(LRP4):c.4898C>T (p.Ser1633Leu) rs146362081 0.00005
NM_002334.4(LRP4):c.5672C>T (p.Thr1891Met) rs372637156 0.00005
NM_002334.4(LRP4):c.922+13G>A rs771013783 0.00005
NM_002334.4(LRP4):c.2535A>C (p.Thr845=) rs145557677 0.00004
NM_002334.4(LRP4):c.4245C>T (p.Asn1415=) rs185084650 0.00004
NM_002334.4(LRP4):c.933A>G (p.Gln311=) rs375108263 0.00004
NM_002334.4(LRP4):c.*44T>C rs372674165 0.00003
NM_002334.4(LRP4):c.1284C>T (p.Pro428=) rs374136996 0.00003
NM_002334.4(LRP4):c.1922C>T (p.Pro641Leu) rs886048355 0.00003
NM_002334.4(LRP4):c.2639C>T (p.Ala880Val) rs373683358 0.00003
NM_002334.4(LRP4):c.431-8C>T rs150531536 0.00003
NM_002334.4(LRP4):c.4928C>T (p.Pro1643Leu) rs767372563 0.00003
NM_002334.4(LRP4):c.968G>A (p.Arg323His) rs745607286 0.00003
NM_002334.4(LRP4):c.*780C>T rs886048344 0.00002
NM_002334.4(LRP4):c.1435C>T (p.Arg479Cys) rs143207358 0.00002
NM_002334.4(LRP4):c.1480C>T (p.Arg494Cys) rs749530671 0.00002
NM_002334.4(LRP4):c.172G>A (p.Gly58Arg) rs139901577 0.00002
NM_002334.4(LRP4):c.2861A>G (p.Tyr954Cys) rs775608977 0.00002
NM_002334.4(LRP4):c.290A>C (p.Glu97Ala) rs766174802 0.00002
NM_002334.4(LRP4):c.3278-6C>T rs373579793 0.00002
NM_002334.4(LRP4):c.3709G>T (p.Ala1237Ser) rs748719669 0.00002
NM_002334.4(LRP4):c.5330A>C (p.Lys1777Thr) rs541585714 0.00002
NM_002334.4(LRP4):c.*1273G>C rs1259687722 0.00001
NM_002334.4(LRP4):c.*2212C>T rs886048339 0.00001
NM_002334.4(LRP4):c.*329T>C rs1422186695 0.00001
NM_002334.4(LRP4):c.*665G>C rs1940431939 0.00001
NM_002334.4(LRP4):c.1365A>G (p.Pro455=) rs143481229 0.00001
NM_002334.4(LRP4):c.168C>T (p.Asp56=) rs1424380670 0.00001
NM_002334.4(LRP4):c.2317C>T (p.Arg773Cys) rs376444422 0.00001
NM_002334.4(LRP4):c.2325T>G (p.Ala775=) rs886048354 0.00001
NM_002334.4(LRP4):c.2374G>A (p.Val792Ile) rs190872977 0.00001
NM_002334.4(LRP4):c.2570A>C (p.Asn857Thr) rs754708237 0.00001
NM_002334.4(LRP4):c.2609G>A (p.Gly870Asp) rs776260999 0.00001
NM_002334.4(LRP4):c.316+1G>A rs780336679 0.00001
NM_002334.4(LRP4):c.3509G>A (p.Arg1170Gln) rs1190944217 0.00001
NM_002334.4(LRP4):c.3699+5G>C rs745544336 0.00001
NM_002334.4(LRP4):c.4094G>A (p.Arg1365Gln) rs770974209 0.00001
NM_002334.4(LRP4):c.4384C>T (p.Arg1462Cys) rs1237519566 0.00001
NM_002334.4(LRP4):c.4693-9G>A rs1160599345 0.00001
NM_002334.4(LRP4):c.4763G>A (p.Arg1588Gln) rs746746234 0.00001
NM_002334.4(LRP4):c.479G>A (p.Cys160Tyr) rs267607221 0.00001
NM_002334.4(LRP4):c.4914C>G (p.Ala1638=) rs1485812094 0.00001
NM_002334.4(LRP4):c.5346C>G (p.Pro1782=) rs759701000 0.00001
NM_002334.4(LRP4):c.734A>G (p.Asn245Ser) rs781770287 0.00001
NM_002334.4(LRP4):c.750C>T (p.Cys250=) rs758493823 0.00001
NM_002334.4(LRP4):c.759C>T (p.Asp253=) rs368640705 0.00001
NM_002334.4(LRP4):c.801C>T (p.Thr267=) rs746028762 0.00001
NM_002334.4(LRP4):c.851G>A (p.Arg284His) rs369307795 0.00001
NM_002334.4(LRP4):c.956G>A (p.Cys319Tyr) rs769749835 0.00001
NM_002334.4(LRP4):c.963T>A (p.Asn321Lys) rs1257559745 0.00001
NM_002334.4(LRP4):c.*1064C>G rs886048343
NM_002334.4(LRP4):c.*1322G>T rs567606707
NM_002334.4(LRP4):c.*1334dup rs886048342
NM_002334.4(LRP4):c.*1467C>T rs1940410910
NM_002334.4(LRP4):c.*1586T>G rs774819807
NM_002334.4(LRP4):c.*1662C>A rs886048341
NM_002334.4(LRP4):c.*2082dup rs886048340
NM_002334.4(LRP4):c.*305C>T rs886048347
NM_002334.4(LRP4):c.*363C>T rs1940441759
NM_002334.4(LRP4):c.*415C>G rs1940440653
NM_002334.4(LRP4):c.*666del rs886048346
NM_002334.4(LRP4):c.*734C>G rs886048345
NM_002334.4(LRP4):c.1345G>A (p.Asp449Asn) rs267607224
NM_002334.4(LRP4):c.1381A>C (p.Thr461Pro) rs267607223
NM_002334.4(LRP4):c.1492A>C (p.Asn498His) rs750371073
NM_002334.4(LRP4):c.1585G>A (p.Asp529Asn) rs267607220
NM_002334.4(LRP4):c.1608G>A (p.Glu536=) rs17848244
NM_002334.4(LRP4):c.1894C>T (p.Arg632Cys) rs1941393359
NM_002334.4(LRP4):c.200-9G>A rs1565801326
NM_002334.4(LRP4):c.2420A>C (p.Gln807Pro) rs1941292006
NM_002334.4(LRP4):c.2482A>G (p.Asn828Asp) rs1941287392
NM_002334.4(LRP4):c.2814+10G>A rs886048353
NM_002334.4(LRP4):c.2814+1G>A
NM_002334.4(LRP4):c.2958G>A (p.Leu986=) rs541593593
NM_002334.4(LRP4):c.3022A>G (p.Met1008Val) rs886048352
NM_002334.4(LRP4):c.3346G>A (p.Glu1116Lys) rs1253557298
NM_002334.4(LRP4):c.3472C>T (p.Arg1158Trp) rs886048351
NM_002334.4(LRP4):c.3536+22C>A rs964551
NM_002334.4(LRP4):c.3615C>T (p.Leu1205=) rs1941000868
NM_002334.4(LRP4):c.3700-21C>G rs2306032
NM_002334.4(LRP4):c.3818G>C (p.Arg1273Pro) rs747456405
NM_002334.4(LRP4):c.409G>A (p.Asp137Asn) rs267607222
NM_002334.4(LRP4):c.4322A>G (p.Asn1441Ser) rs886048350
NM_002334.4(LRP4):c.4400A>G (p.Asn1467Ser) rs886048349
NM_002334.4(LRP4):c.4646G>A (p.Arg1549Gln) rs886048348
NM_002334.4(LRP4):c.4890C>T (p.Ala1630=) rs550931351
NM_002334.4(LRP4):c.4930G>A (p.Asp1644Asn) rs192480207
NM_002334.4(LRP4):c.4937G>A (p.Arg1646Gln) rs3816614
NM_002334.4(LRP4):c.4940C>G (p.Pro1647Arg) rs772595373
NM_002334.4(LRP4):c.4959C>G (p.Gly1653=) rs2134775125
NM_002334.4(LRP4):c.5168A>G (p.His1723Arg)
NM_002334.4(LRP4):c.528C>T (p.Gly176=) rs886048356
NM_002334.4(LRP4):c.547+1G>A rs762425885
NM_002334.4(LRP4):c.694C>A (p.Arg232Ser)
NM_002334.4(LRP4):c.776A>G (p.Gln259Arg) rs1941594469
NM_002334.4(LRP4):c.842G>T (p.Arg281Leu) rs146670859

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