ClinVar Miner

List of variants studied for Pierson syndrome; Nephrotic syndrome, type 5, with or without ocular abnormalities by Invitae

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ClinVar version:
Total variants: 311
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HGVS dbSNP
NC_000003.11:g.(?_49161700_49165984dup
NC_000003.12:g.(?_49121216)_(49533209_?)del
NM_002292.4(LAMB2):c.1014C>T (p.Asp338=) rs150731491
NM_002292.4(LAMB2):c.1015G>A (p.Gly339Ser)
NM_002292.4(LAMB2):c.1018C>T (p.His340Tyr) rs903919410
NM_002292.4(LAMB2):c.101C>A (p.Ala34Asp) rs202057459
NM_002292.4(LAMB2):c.1023T>A (p.Ser341Arg)
NM_002292.4(LAMB2):c.109C>G (p.Pro37Ala) rs144765752
NM_002292.4(LAMB2):c.114T>C (p.Asp38=)
NM_002292.4(LAMB2):c.1169G>A (p.Arg390Gln)
NM_002292.4(LAMB2):c.1193C>T (p.Thr398Ile) rs77500937
NM_002292.4(LAMB2):c.1196A>G (p.Lys399Arg)
NM_002292.4(LAMB2):c.1201C>G (p.Leu401Val)
NM_002292.4(LAMB2):c.1206G>A (p.Arg402=) rs201999373
NM_002292.4(LAMB2):c.1211C>T (p.Pro404Leu)
NM_002292.4(LAMB2):c.1218G>A (p.Val406=) rs1284533242
NM_002292.4(LAMB2):c.1257C>A (p.Asp419Glu)
NM_002292.4(LAMB2):c.1261G>A (p.Gly421Ser)
NM_002292.4(LAMB2):c.1284C>A (p.Asp428Glu)
NM_002292.4(LAMB2):c.1305C>T (p.Ser435=) rs144530798
NM_002292.4(LAMB2):c.1306G>A (p.Gly436Ser) rs142402808
NM_002292.4(LAMB2):c.1311G>A (p.Gln437=) rs754837577
NM_002292.4(LAMB2):c.1352A>G (p.Gln451Arg) rs1575535913
NM_002292.4(LAMB2):c.1357C>T (p.Arg453Cys) rs765252703
NM_002292.4(LAMB2):c.1358G>A (p.Arg453His) rs1428596182
NM_002292.4(LAMB2):c.1391G>A (p.Arg464His) rs188487818
NM_002292.4(LAMB2):c.1403G>A (p.Arg468Gln) rs572289637
NM_002292.4(LAMB2):c.1405+9C>T
NM_002292.4(LAMB2):c.1406G>A (p.Arg469Gln) rs1166721867
NM_002292.4(LAMB2):c.1422A>C (p.Ala474=) rs201408584
NM_002292.4(LAMB2):c.1442G>A (p.Ser481Asn) rs144230655
NM_002292.4(LAMB2):c.1446T>C (p.Thr482=) rs778631081
NM_002292.4(LAMB2):c.1477del (p.Cys493fs)
NM_002292.4(LAMB2):c.149C>T (p.Ala50Val) rs758825199
NM_002292.4(LAMB2):c.1518+4C>T
NM_002292.4(LAMB2):c.1518+5G>A
NM_002292.4(LAMB2):c.1519-6G>A
NM_002292.4(LAMB2):c.152C>T (p.Thr51Met) rs748829288
NM_002292.4(LAMB2):c.1542C>T (p.His514=) rs150783390
NM_002292.4(LAMB2):c.1551C>T (p.Leu517=)
NM_002292.4(LAMB2):c.1552G>A (p.Gly518Ser)
NM_002292.4(LAMB2):c.1559G>A (p.Arg520His) rs148333147
NM_002292.4(LAMB2):c.1569C>T (p.Asp523=) rs1169038040
NM_002292.4(LAMB2):c.1572C>T (p.Cys524=) rs111883392
NM_002292.4(LAMB2):c.1573G>A (p.Asp525Asn) rs200694459
NM_002292.4(LAMB2):c.1614A>T (p.Thr538=)
NM_002292.4(LAMB2):c.1654T>C (p.Cys552Arg)
NM_002292.4(LAMB2):c.1668A>C (p.Gln556His)
NM_002292.4(LAMB2):c.1681C>T (p.Arg561Trp)
NM_002292.4(LAMB2):c.1724G>A (p.Arg575Gln) rs61729152
NM_002292.4(LAMB2):c.1750C>A (p.Arg584Ser) rs369408727
NM_002292.4(LAMB2):c.1762C>G (p.Pro588Ala)
NM_002292.4(LAMB2):c.1764C>T (p.Pro588=) rs33942096
NM_002292.4(LAMB2):c.1768G>A (p.Glu590Lys) rs1405443471
NM_002292.4(LAMB2):c.1797C>T (p.Phe599=)
NM_002292.4(LAMB2):c.1825G>C (p.Glu609Gln)
NM_002292.4(LAMB2):c.1851G>A (p.Lys617=) rs1131791
NM_002292.4(LAMB2):c.1882G>C (p.Glu628Gln)
NM_002292.4(LAMB2):c.1886C>T (p.Pro629Leu)
NM_002292.4(LAMB2):c.1890+9C>T rs1575535180
NM_002292.4(LAMB2):c.1891-10G>A rs746381319
NM_002292.4(LAMB2):c.189T>C (p.Thr63=) rs200171185
NM_002292.4(LAMB2):c.191C>T (p.Ala64Val)
NM_002292.4(LAMB2):c.1930C>T (p.Arg644Cys)
NM_002292.4(LAMB2):c.1931G>A (p.Arg644His) rs200738080
NM_002292.4(LAMB2):c.1971G>A (p.Leu657=)
NM_002292.4(LAMB2):c.2018+8C>A rs1553778611
NM_002292.4(LAMB2):c.2019-8G>A rs377396194
NM_002292.4(LAMB2):c.2019G>A (p.Arg673=)
NM_002292.4(LAMB2):c.2029T>C (p.Phe677Leu) rs373260991
NM_002292.4(LAMB2):c.2061C>G (p.Ile687Met) rs912735454
NM_002292.4(LAMB2):c.2089C>T (p.Arg697Trp)
NM_002292.4(LAMB2):c.2092A>C (p.Thr698Pro)
NM_002292.4(LAMB2):c.2095G>C (p.Gly699Arg) rs28364667
NM_002292.4(LAMB2):c.2099G>A (p.Gly700Glu) rs142860588
NM_002292.4(LAMB2):c.2099G>C (p.Gly700Ala) rs142860588
NM_002292.4(LAMB2):c.2152-5T>C
NM_002292.4(LAMB2):c.2152C>T (p.Leu718=) rs756535650
NM_002292.4(LAMB2):c.2165C>A (p.Pro722His)
NM_002292.4(LAMB2):c.2167C>T (p.Arg723Cys) rs145660751
NM_002292.4(LAMB2):c.2168G>A (p.Arg723His)
NM_002292.4(LAMB2):c.216C>T (p.Gly72=) rs768806166
NM_002292.4(LAMB2):c.2170G>T (p.Val724Phe)
NM_002292.4(LAMB2):c.2179C>G (p.Leu727Val) rs760463111
NM_002292.4(LAMB2):c.2218C>T (p.Arg740Cys) rs748798004
NM_002292.4(LAMB2):c.2219G>T (p.Arg740Leu)
NM_002292.4(LAMB2):c.2236C>T (p.Arg746Cys) rs200658738
NM_002292.4(LAMB2):c.2237G>A (p.Arg746His)
NM_002292.4(LAMB2):c.2263G>C (p.Val755Leu) rs1560073886
NM_002292.4(LAMB2):c.2271C>A (p.Ser757Arg) rs143405268
NM_002292.4(LAMB2):c.2284T>C (p.Ser762Pro)
NM_002292.4(LAMB2):c.2297C>T (p.Ala766Val) rs773407518
NM_002292.4(LAMB2):c.2307C>T (p.Leu769=) rs147076626
NM_002292.4(LAMB2):c.2322C>G (p.Thr774=) rs142116851
NM_002292.4(LAMB2):c.2330A>G (p.Tyr777Cys) rs772581224
NM_002292.4(LAMB2):c.2336G>A (p.Gly779Asp) rs200858061
NM_002292.4(LAMB2):c.2373G>A (p.Leu791=) rs1478443594
NM_002292.4(LAMB2):c.2408T>C (p.Leu803Pro)
NM_002292.4(LAMB2):c.2420G>T (p.Gly807Val) rs200740666
NM_002292.4(LAMB2):c.2432G>A (p.Arg811His)
NM_002292.4(LAMB2):c.2433C>T (p.Arg811=)
NM_002292.4(LAMB2):c.2434C>T (p.Arg812Cys) rs151134957
NM_002292.4(LAMB2):c.2470G>A (p.Gly824Ser)
NM_002292.4(LAMB2):c.2475C>T (p.Pro825=) rs1575533579
NM_002292.4(LAMB2):c.2488+6C>G
NM_002292.4(LAMB2):c.2489-7C>T rs374958213
NM_002292.4(LAMB2):c.2489C>T (p.Ala830Val)
NM_002292.4(LAMB2):c.2505C>T (p.His835=) rs752783113
NM_002292.4(LAMB2):c.2509G>A (p.Gly837Arg)
NM_002292.4(LAMB2):c.2521A>C (p.Ser841Arg)
NM_002292.4(LAMB2):c.252C>T (p.Asp84=)
NM_002292.4(LAMB2):c.253G>A (p.Glu85Lys) rs140371771
NM_002292.4(LAMB2):c.2558G>A (p.Arg853Gln)
NM_002292.4(LAMB2):c.2558G>T (p.Arg853Leu)
NM_002292.4(LAMB2):c.2579G>A (p.Arg860His)
NM_002292.4(LAMB2):c.2588G>A (p.Arg863His) rs146326783
NM_002292.4(LAMB2):c.261G>A (p.Lys87=) rs149408554
NM_002292.4(LAMB2):c.261G>C (p.Lys87Asn) rs149408554
NM_002292.4(LAMB2):c.2626C>T (p.Pro876Ser)
NM_002292.4(LAMB2):c.2660A>T (p.Asn887Ile) rs376553423
NM_002292.4(LAMB2):c.2669C>T (p.Thr890Ile) rs527639885
NM_002292.4(LAMB2):c.2673C>T (p.Gly891=) rs144092322
NM_002292.4(LAMB2):c.2690G>A (p.Arg897His)
NM_002292.4(LAMB2):c.2702G>C (p.Gly901Ala)
NM_002292.4(LAMB2):c.2724C>T (p.Cys908=) rs142012138
NM_002292.4(LAMB2):c.2726T>C (p.Ile909Thr) rs201756319
NM_002292.4(LAMB2):c.2727T>C (p.Ile909=) rs376904255
NM_002292.4(LAMB2):c.2740G>A (p.Gly914Arg) rs35713889
NM_002292.4(LAMB2):c.2749C>T (p.Arg917Trp)
NM_002292.4(LAMB2):c.2754G>T (p.Leu918=)
NM_002292.4(LAMB2):c.2773C>T (p.Arg925Trp)
NM_002292.4(LAMB2):c.2840A>T (p.Glu947Val)
NM_002292.4(LAMB2):c.284G>A (p.Arg95His) rs147691227
NM_002292.4(LAMB2):c.284G>C (p.Arg95Pro) rs147691227
NM_002292.4(LAMB2):c.2854A>T (p.Ile952Phe)
NM_002292.4(LAMB2):c.2862C>G (p.Cys954Trp) rs1376202280
NM_002292.4(LAMB2):c.2885-8G>A rs374181186
NM_002292.4(LAMB2):c.2903G>A (p.Cys968Tyr)
NM_002292.4(LAMB2):c.2908C>T (p.Pro970Ser)
NM_002292.4(LAMB2):c.2922G>C (p.Gly974=) rs145465720
NM_002292.4(LAMB2):c.2936C>G (p.Pro979Arg) rs1575532774
NM_002292.4(LAMB2):c.2945G>A (p.Arg982Gln) rs149653966
NM_002292.4(LAMB2):c.2959G>A (p.Glu987Lys) rs34759087
NM_002292.4(LAMB2):c.2961G>C (p.Glu987Asp)
NM_002292.4(LAMB2):c.2974A>G (p.Ile992Val)
NM_002292.4(LAMB2):c.2975T>C (p.Ile992Thr) rs148732023
NM_002292.4(LAMB2):c.2984T>C (p.Met995Thr)
NM_002292.4(LAMB2):c.3036C>A (p.His1012Gln) rs777538430
NM_002292.4(LAMB2):c.3038A>G (p.His1013Arg)
NM_002292.4(LAMB2):c.3044A>T (p.Glu1015Val)
NM_002292.4(LAMB2):c.3045G>A (p.Glu1015=) rs746638105
NM_002292.4(LAMB2):c.3059C>A (p.Ala1020Asp) rs780053995
NM_002292.4(LAMB2):c.306C>T (p.Asn102=) rs79448908
NM_002292.4(LAMB2):c.3071C>T (p.Pro1024Leu) rs368506627
NM_002292.4(LAMB2):c.3109+1G>A
NM_002292.4(LAMB2):c.3109C>T (p.Arg1037Cys) rs201159870
NM_002292.4(LAMB2):c.3110-3C>T
NM_002292.4(LAMB2):c.3118T>A (p.Cys1040Ser)
NM_002292.4(LAMB2):c.3140C>T (p.Pro1047Leu)
NM_002292.4(LAMB2):c.3141G>A (p.Pro1047=) rs373002075
NM_002292.4(LAMB2):c.3157_3159del (p.Pro1053del) rs756027369
NM_002292.4(LAMB2):c.3192G>C (p.Gln1064His) rs1553778039
NM_002292.4(LAMB2):c.3221C>T (p.Pro1074Leu)
NM_002292.4(LAMB2):c.3232C>T (p.Arg1078Cys) rs143284092
NM_002292.4(LAMB2):c.3233G>A (p.Arg1078His)
NM_002292.4(LAMB2):c.3294C>T (p.His1098=) rs376981766
NM_002292.4(LAMB2):c.3325G>A (p.Glu1109Lys) rs79677861
NM_002292.4(LAMB2):c.3327+8A>C rs756229789
NM_002292.4(LAMB2):c.3355G>A (p.Gly1119Ser) rs199570781
NM_002292.4(LAMB2):c.3387A>G (p.Gln1129=) rs34290943
NM_002292.4(LAMB2):c.3413T>G (p.Leu1138Trp)
NM_002292.4(LAMB2):c.3443G>A (p.Arg1148His) rs138774635
NM_002292.4(LAMB2):c.3470G>A (p.Arg1157His) rs766772811
NM_002292.4(LAMB2):c.3493C>T (p.Arg1165Cys)
NM_002292.4(LAMB2):c.3494G>A (p.Arg1165His) rs374189761
NM_002292.4(LAMB2):c.3498A>G (p.Pro1166=)
NM_002292.4(LAMB2):c.3521A>C (p.Asp1174Ala)
NM_002292.4(LAMB2):c.3533G>A (p.Arg1178His)
NM_002292.4(LAMB2):c.3547A>G (p.Ile1183Val) rs370877359
NM_002292.4(LAMB2):c.3560G>A (p.Cys1187Tyr)
NM_002292.4(LAMB2):c.3573T>C (p.His1191=) rs1343630379
NM_002292.4(LAMB2):c.3582C>T (p.Phe1194=) rs138540017
NM_002292.4(LAMB2):c.358C>T (p.Arg120Trp)
NM_002292.4(LAMB2):c.3620G>A (p.Arg1207His)
NM_002292.4(LAMB2):c.3640C>T (p.Arg1214Trp) rs760524944
NM_002292.4(LAMB2):c.3645G>A (p.Ala1215=) rs13082063
NM_002292.4(LAMB2):c.3727G>C (p.Gly1243Arg) rs755874006
NM_002292.4(LAMB2):c.3756C>T (p.Ala1252=)
NM_002292.4(LAMB2):c.3757G>A (p.Ala1253Thr) rs141062242
NM_002292.4(LAMB2):c.3763A>G (p.Thr1255Ala) rs1180166011
NM_002292.4(LAMB2):c.3772C>G (p.Leu1258Val) rs771785818
NM_002292.4(LAMB2):c.3797+4C>T
NM_002292.4(LAMB2):c.3797+5G>A rs150213016
NM_002292.4(LAMB2):c.3806T>C (p.Ile1269Thr)
NM_002292.4(LAMB2):c.3838G>A (p.Glu1280Lys)
NM_002292.4(LAMB2):c.3858G>T (p.Val1286=) rs34967349
NM_002292.4(LAMB2):c.3875A>G (p.Asn1292Ser)
NM_002292.4(LAMB2):c.3875A>T (p.Asn1292Ile) rs148246465
NM_002292.4(LAMB2):c.395C>T (p.Ala132Val)
NM_002292.4(LAMB2):c.4004A>G (p.His1335Arg)
NM_002292.4(LAMB2):c.4007C>G (p.Ala1336Gly) rs886058672
NM_002292.4(LAMB2):c.4034G>A (p.Arg1345His) rs75073433
NM_002292.4(LAMB2):c.4071T>C (p.Pro1357=)
NM_002292.4(LAMB2):c.4118A>G (p.Asp1373Gly) rs112933248
NM_002292.4(LAMB2):c.4140C>A (p.Asn1380Lys) rs267607207
NM_002292.4(LAMB2):c.4148A>G (p.His1383Arg) rs754983373
NM_002292.4(LAMB2):c.4157A>G (p.Asn1386Ser)
NM_002292.4(LAMB2):c.4163G>A (p.Arg1388Gln) rs146522641
NM_002292.4(LAMB2):c.4222C>T (p.Leu1408=) rs143974640
NM_002292.4(LAMB2):c.4225-5G>C rs372161777
NM_002292.4(LAMB2):c.4257T>C (p.Ala1419=) rs149536828
NM_002292.4(LAMB2):c.4274G>C (p.Gly1425Ala) rs141317511
NM_002292.4(LAMB2):c.4299G>A (p.Gly1433=) rs1165303917
NM_002292.4(LAMB2):c.4304C>T (p.Pro1435Leu) rs140968382
NM_002292.4(LAMB2):c.4328A>G (p.Asn1443Ser)
NM_002292.4(LAMB2):c.4337C>T (p.Ala1446Val)
NM_002292.4(LAMB2):c.4338G>A (p.Ala1446=)
NM_002292.4(LAMB2):c.4347A>C (p.Ala1449=) rs202083663
NM_002292.4(LAMB2):c.4349A>G (p.Asp1450Gly)
NM_002292.4(LAMB2):c.4363C>T (p.Arg1455Trp) rs901971113
NM_002292.4(LAMB2):c.4367C>T (p.Ala1456Val)
NM_002292.4(LAMB2):c.4369C>T (p.Arg1457Trp) rs151037751
NM_002292.4(LAMB2):c.4370G>A (p.Arg1457Gln) rs148818522
NM_002292.4(LAMB2):c.4393C>T (p.Arg1465Trp) rs771487133
NM_002292.4(LAMB2):c.4398A>G (p.Ala1466=)
NM_002292.4(LAMB2):c.4415G>C (p.Ser1472Thr) rs1377720264
NM_002292.4(LAMB2):c.4425C>T (p.Ser1475=)
NM_002292.4(LAMB2):c.4444C>T (p.Arg1482Trp) rs755963903
NM_002292.4(LAMB2):c.4459G>T (p.Ala1487Ser)
NM_002292.4(LAMB2):c.4510_4552del (p.Gln1504fs)
NM_002292.4(LAMB2):c.4516G>A (p.Glu1506Lys)
NM_002292.4(LAMB2):c.452_453del (p.Thr151fs)
NM_002292.4(LAMB2):c.4559A>G (p.Lys1520Arg) rs148069401
NM_002292.4(LAMB2):c.460-8C>G rs200141829
NM_002292.4(LAMB2):c.4613C>T (p.Thr1538Ile)
NM_002292.4(LAMB2):c.4645G>T (p.Ala1549Ser) rs764494090
NM_002292.4(LAMB2):c.4678G>A (p.Ala1560Thr)
NM_002292.4(LAMB2):c.467G>A (p.Arg156His) rs1378409559
NM_002292.4(LAMB2):c.4690C>T (p.Arg1564Trp) rs780366815
NM_002292.4(LAMB2):c.4694G>T (p.Ser1565Ile) rs373872524
NM_002292.4(LAMB2):c.4707G>A (p.Val1569=) rs1575528672
NM_002292.4(LAMB2):c.4712C>T (p.Ala1571Val)
NM_002292.4(LAMB2):c.4741C>T (p.Arg1581Cys)
NM_002292.4(LAMB2):c.4742G>A (p.Arg1581His)
NM_002292.4(LAMB2):c.4751A>G (p.Glu1584Gly) rs768491835
NM_002292.4(LAMB2):c.4762C>T (p.Gln1588Ter) rs775456607
NM_002292.4(LAMB2):c.4773G>A (p.Arg1591=)
NM_002292.4(LAMB2):c.4773dup (p.Arg1592fs) rs1553776921
NM_002292.4(LAMB2):c.4774C>T (p.Arg1592Trp) rs61729458
NM_002292.4(LAMB2):c.4778C>A (p.Ala1593Glu)
NM_002292.4(LAMB2):c.4782-15_4782-10del rs1575527834
NM_002292.4(LAMB2):c.4848G>A (p.Arg1616=)
NM_002292.4(LAMB2):c.4863C>G (p.Ala1621=)
NM_002292.4(LAMB2):c.4874T>A (p.Ile1625Asn)
NM_002292.4(LAMB2):c.4877G>A (p.Arg1626Gln) rs752674803
NM_002292.4(LAMB2):c.4877G>C (p.Arg1626Pro) rs752674803
NM_002292.4(LAMB2):c.4878G>A (p.Arg1626=) rs148648480
NM_002292.4(LAMB2):c.4882G>A (p.Ala1628Thr)
NM_002292.4(LAMB2):c.4888G>A (p.Ala1630Thr)
NM_002292.4(LAMB2):c.4919A>G (p.Tyr1640Cys)
NM_002292.4(LAMB2):c.4928A>G (p.Gln1643Arg)
NM_002292.4(LAMB2):c.4951C>T (p.Arg1651Trp)
NM_002292.4(LAMB2):c.4958T>C (p.Leu1653Pro) rs200761921
NM_002292.4(LAMB2):c.4998C>T (p.Leu1666=) rs143723352
NM_002292.4(LAMB2):c.5021G>A (p.Arg1674Gln) rs764128779
NM_002292.4(LAMB2):c.5026G>A (p.Gly1676Arg) rs200747448
NM_002292.4(LAMB2):c.5026_5027delinsAT (p.Gly1676Ile) rs1575526216
NM_002292.4(LAMB2):c.5027G>T (p.Gly1676Val) rs199580679
NM_002292.4(LAMB2):c.5039C>T (p.Ala1680Val) rs141473691
NM_002292.4(LAMB2):c.5061G>A (p.Thr1687=) rs150465100
NM_002292.4(LAMB2):c.5061G>T (p.Thr1687=) rs150465100
NM_002292.4(LAMB2):c.5109C>T (p.Arg1703=) rs151292828
NM_002292.4(LAMB2):c.510C>T (p.Arg170=) rs149856537
NM_002292.4(LAMB2):c.5135C>A (p.Thr1712Lys)
NM_002292.4(LAMB2):c.513C>T (p.Thr171=)
NM_002292.4(LAMB2):c.5142G>A (p.Lys1714=) rs139511264
NM_002292.4(LAMB2):c.5155C>T (p.Arg1719Cys) rs201458234
NM_002292.4(LAMB2):c.5156G>A (p.Arg1719His)
NM_002292.4(LAMB2):c.5166A>G (p.Gln1722=) rs114485284
NM_002292.4(LAMB2):c.5186C>T (p.Ala1729Val)
NM_002292.4(LAMB2):c.5213C>T (p.Ala1738Val) rs139156815
NM_002292.4(LAMB2):c.5233G>A (p.Ala1745Thr)
NM_002292.4(LAMB2):c.5240A>G (p.Asp1747Gly) rs777643155
NM_002292.4(LAMB2):c.5255T>A (p.Leu1752Gln) rs1575524600
NM_002292.4(LAMB2):c.527G>A (p.Arg176Gln) rs924410863
NM_002292.4(LAMB2):c.5286T>C (p.Asn1762=) rs781092208
NM_002292.4(LAMB2):c.5293G>A (p.Ala1765Thr) rs74951356
NM_002292.4(LAMB2):c.5329G>A (p.Glu1777Lys)
NM_002292.4(LAMB2):c.5346C>T (p.Ser1782=)
NM_002292.4(LAMB2):c.5379C>G (p.Ile1793Met) rs11550620
NM_002292.4(LAMB2):c.598G>A (p.Val200Ile)
NM_002292.4(LAMB2):c.605G>A (p.Cys202Tyr) rs1575537041
NM_002292.4(LAMB2):c.646G>A (p.Glu216Lys) rs368339529
NM_002292.4(LAMB2):c.661G>A (p.Val221Met) rs748711014
NM_002292.4(LAMB2):c.661G>T (p.Val221Leu)
NM_002292.4(LAMB2):c.703C>T (p.Arg235Trp) rs144133177
NM_002292.4(LAMB2):c.713-3C>T rs775876911
NM_002292.4(LAMB2):c.713-7G>A rs200186640
NM_002292.4(LAMB2):c.76+10C>T rs370554848
NM_002292.4(LAMB2):c.77-9T>C
NM_002292.4(LAMB2):c.787C>T (p.Arg263Trp)
NM_002292.4(LAMB2):c.794A>C (p.Glu265Ala) rs903021924
NM_002292.4(LAMB2):c.795G>A (p.Glu265=) rs375953746
NM_002292.4(LAMB2):c.816T>C (p.Tyr272=) rs151251039
NM_002292.4(LAMB2):c.872A>G (p.Glu291Gly)
NM_002292.4(LAMB2):c.8T>C (p.Leu3Pro) rs373955878
NM_002292.4(LAMB2):c.903T>A (p.His301Gln)
NM_002292.4(LAMB2):c.914T>C (p.Met305Thr) rs199794467
NM_002292.4(LAMB2):c.915+6G>A rs2071677
NM_002292.4(LAMB2):c.922G>A (p.Gly308Arg) rs774169261
NM_002292.4(LAMB2):c.951T>A (p.Arg317=) rs755050242

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