ClinVar Miner

List of variants reported as uncertain significance for Pierson syndrome; Nephrotic syndrome, type 5, with or without ocular abnormalities by Invitae

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ClinVar version:
Total variants: 189
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HGVS dbSNP
NM_002292.4(LAMB2):c.1015G>A (p.Gly339Ser)
NM_002292.4(LAMB2):c.1018C>T (p.His340Tyr) rs903919410
NM_002292.4(LAMB2):c.1023T>A (p.Ser341Arg)
NM_002292.4(LAMB2):c.1169G>A (p.Arg390Gln)
NM_002292.4(LAMB2):c.1196A>G (p.Lys399Arg)
NM_002292.4(LAMB2):c.1201C>G (p.Leu401Val)
NM_002292.4(LAMB2):c.1211C>T (p.Pro404Leu)
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.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.1403G>A (p.Arg468Gln) rs572289637
NM_002292.4(LAMB2):c.1406G>A (p.Arg469Gln) rs1166721867
NM_002292.4(LAMB2):c.1442G>A (p.Ser481Asn) rs144230655
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.152C>T (p.Thr51Met) rs748829288
NM_002292.4(LAMB2):c.1552G>A (p.Gly518Ser)
NM_002292.4(LAMB2):c.1559G>A (p.Arg520His) rs148333147
NM_002292.4(LAMB2):c.1573G>A (p.Asp525Asn) rs200694459
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.1750C>A (p.Arg584Ser) rs369408727
NM_002292.4(LAMB2):c.1762C>G (p.Pro588Ala)
NM_002292.4(LAMB2):c.1768G>A (p.Glu590Lys) rs1405443471
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.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.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.2099G>C (p.Gly700Ala) rs142860588
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.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.2330A>G (p.Tyr777Cys) rs772581224
NM_002292.4(LAMB2):c.2336G>A (p.Gly779Asp) rs200858061
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.2434C>T (p.Arg812Cys) rs151134957
NM_002292.4(LAMB2):c.2470G>A (p.Gly824Ser)
NM_002292.4(LAMB2):c.2488+6C>G
NM_002292.4(LAMB2):c.2489C>T (p.Ala830Val)
NM_002292.4(LAMB2):c.2509G>A (p.Gly837Arg)
NM_002292.4(LAMB2):c.2521A>C (p.Ser841Arg)
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>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.2690G>A (p.Arg897His)
NM_002292.4(LAMB2):c.2702G>C (p.Gly901Ala)
NM_002292.4(LAMB2):c.2726T>C (p.Ile909Thr) rs201756319
NM_002292.4(LAMB2):c.2749C>T (p.Arg917Trp)
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.2903G>A (p.Cys968Tyr)
NM_002292.4(LAMB2):c.2908C>T (p.Pro970Ser)
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.2961G>C (p.Glu987Asp)
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.3059C>A (p.Ala1020Asp) rs780053995
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.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.3355G>A (p.Gly1119Ser) rs199570781
NM_002292.4(LAMB2):c.3413T>G (p.Leu1138Trp)
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.3521A>C (p.Asp1174Ala)
NM_002292.4(LAMB2):c.3547A>G (p.Ile1183Val) rs370877359
NM_002292.4(LAMB2):c.3560G>A (p.Cys1187Tyr)
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.3727G>C (p.Gly1243Arg) rs755874006
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+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.3875A>G (p.Asn1292Ser)
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.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.4274G>C (p.Gly1425Ala) rs141317511
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.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.4393C>T (p.Arg1465Trp) rs771487133
NM_002292.4(LAMB2):c.4415G>C (p.Ser1472Thr) rs1377720264
NM_002292.4(LAMB2):c.4444C>T (p.Arg1482Trp) rs755963903
NM_002292.4(LAMB2):c.4459G>T (p.Ala1487Ser)
NM_002292.4(LAMB2):c.4516G>A (p.Glu1506Lys)
NM_002292.4(LAMB2):c.4559A>G (p.Lys1520Arg) rs148069401
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.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.4778C>A (p.Ala1593Glu)
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.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.4951C>T (p.Arg1651Trp)
NM_002292.4(LAMB2):c.4958T>C (p.Leu1653Pro) rs200761921
NM_002292.4(LAMB2):c.5021G>A (p.Arg1674Gln) rs764128779
NM_002292.4(LAMB2):c.5026_5027delinsAT (p.Gly1676Ile) rs1575526216
NM_002292.4(LAMB2):c.5039C>T (p.Ala1680Val) rs141473691
NM_002292.4(LAMB2):c.5135C>A (p.Thr1712Lys)
NM_002292.4(LAMB2):c.5155C>T (p.Arg1719Cys) rs201458234
NM_002292.4(LAMB2):c.5156G>A (p.Arg1719His)
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.5329G>A (p.Glu1777Lys)
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.713-3C>T rs775876911
NM_002292.4(LAMB2):c.787C>T (p.Arg263Trp)
NM_002292.4(LAMB2):c.794A>C (p.Glu265Ala) rs903021924
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.922G>A (p.Gly308Arg) rs774169261

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