ClinVar Miner

List of variants studied for LAMB2-related infantile-onset nephrotic syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (3):
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Minimum conflict level:
ClinVar version:
Total variants: 148
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HGVS dbSNP gnomAD frequency
NM_002292.4(LAMB2):c.1764C>T (p.Pro588=) rs33942096 0.01677
NM_002292.4(LAMB2):c.3858G>T (p.Val1286=) rs34967349 0.00312
NM_002292.4(LAMB2):c.510C>T (p.Arg170=) rs149856537 0.00167
NM_002292.4(LAMB2):c.5039C>T (p.Ala1680Val) rs141473691 0.00033
NM_002292.4(LAMB2):c.4140C>A (p.Asn1380Lys) rs267607207 0.00028
NM_002292.4(LAMB2):c.1762C>G (p.Pro588Ala) rs144324168 0.00026
NM_002292.4(LAMB2):c.1886C>T (p.Pro629Leu) rs148491867 0.00026
NM_002292.4(LAMB2):c.2660A>T (p.Asn887Ile) rs376553423 0.00026
NM_002292.4(LAMB2):c.1931G>A (p.Arg644His) rs200738080 0.00025
NM_002292.4(LAMB2):c.2588G>A (p.Arg863His) rs146326783 0.00025
NM_002292.4(LAMB2):c.5061G>A (p.Thr1687=) rs150465100 0.00025
NM_002292.4(LAMB2):c.915+16C>T rs376022767 0.00025
NM_002292.4(LAMB2):c.2271C>A (p.Ser757Arg) rs143405268 0.00021
NM_002292.4(LAMB2):c.4149C>A (p.His1383Gln) rs150064487 0.00019
NM_002292.4(LAMB2):c.4306C>T (p.Arg1436Cys) rs200127858 0.00019
NM_002292.4(LAMB2):c.5379C>G (p.Ile1793Met) rs11550620 0.00019
NM_002292.4(LAMB2):c.914T>C (p.Met305Thr) rs199794467 0.00019
NM_002292.4(LAMB2):c.460-8C>G rs200141829 0.00018
NM_002292.4(LAMB2):c.2344+14A>T rs369733428 0.00016
NM_002292.4(LAMB2):c.4257T>C (p.Ala1419=) rs149536828 0.00016
NM_002292.4(LAMB2):c.2432G>A (p.Arg811His) rs201223945 0.00014
NM_002292.4(LAMB2):c.284G>A (p.Arg95His) rs147691227 0.00014
NM_002292.4(LAMB2):c.4148A>G (p.His1383Arg) rs754983373 0.00014
NM_002292.4(LAMB2):c.4438A>G (p.Thr1480Ala) rs146110649 0.00014
NM_002292.4(LAMB2):c.4559A>G (p.Lys1520Arg) rs148069401 0.00013
NM_002292.4(LAMB2):c.1442G>A (p.Ser481Asn) rs144230655 0.00012
NM_002292.4(LAMB2):c.2488+6C>G rs371384656 0.00012
NM_002292.4(LAMB2):c.2720+11A>G rs370034592 0.00012
NM_002292.4(LAMB2):c.1559G>A (p.Arg520His) rs148333147 0.00011
NM_002292.4(LAMB2):c.3355G>A (p.Gly1119Ser) rs199570781 0.00011
NM_002292.4(LAMB2):c.4425C>T (p.Ser1475=) rs140142444 0.00011
NM_002292.4(LAMB2):c.4694G>T (p.Ser1565Ile) rs373872524 0.00011
NM_002292.4(LAMB2):c.2505C>T (p.His835=) rs752783113 0.00009
NM_002292.4(LAMB2):c.4274G>C (p.Gly1425Ala) rs141317511 0.00009
NM_002292.4(LAMB2):c.1201C>G (p.Leu401Val) rs148956392 0.00007
NM_002292.4(LAMB2):c.3470G>A (p.Arg1157His) rs766772811 0.00007
NM_002292.4(LAMB2):c.787C>T (p.Arg263Trp) rs200316162 0.00007
NM_002292.4(LAMB2):c.*92A>G rs886058670 0.00006
NM_002292.4(LAMB2):c.1422A>C (p.Ala474=) rs201408584 0.00006
NM_002292.4(LAMB2):c.1750C>A (p.Arg584Ser) rs369408727 0.00006
NM_002292.4(LAMB2):c.1890+19A>C rs763388406 0.00006
NM_002292.4(LAMB2):c.2029T>C (p.Phe677Leu) rs373260991 0.00006
NM_002292.4(LAMB2):c.280C>T (p.Arg94Trp) rs754551568 0.00006
NM_002292.4(LAMB2):c.2945G>A (p.Arg982Gln) rs149653966 0.00006
NM_002292.4(LAMB2):c.2983A>G (p.Met995Val) rs773681564 0.00006
NM_002292.4(LAMB2):c.4071T>C (p.Pro1357=) rs770830943 0.00006
NM_002292.4(LAMB2):c.4573+5G>A rs372438959 0.00006
NM_002292.4(LAMB2):c.800G>A (p.Arg267Gln) rs772368832 0.00006
NM_002292.4(LAMB2):c.1284C>A (p.Asp428Glu) rs770637532 0.00005
NM_002292.4(LAMB2):c.3140C>T (p.Pro1047Leu) rs758124972 0.00005
NM_002292.4(LAMB2):c.3617C>T (p.Ala1206Val) rs750000849 0.00005
NM_002292.4(LAMB2):c.3797+5G>A rs150213016 0.00005
NM_002292.4(LAMB2):c.4337C>T (p.Ala1446Val) rs757984116 0.00005
NM_002292.4(LAMB2):c.1015G>A (p.Gly339Ser) rs376294474 0.00004
NM_002292.4(LAMB2):c.1789T>C (p.Ser597Pro) rs764346736 0.00004
NM_002292.4(LAMB2):c.2218C>T (p.Arg740Cys) rs748798004 0.00004
NM_002292.4(LAMB2):c.2236C>T (p.Arg746Cys) rs200658738 0.00004
NM_002292.4(LAMB2):c.3221C>T (p.Pro1074Leu) rs753249251 0.00004
NM_002292.4(LAMB2):c.3757G>A (p.Ala1253Thr) rs141062242 0.00004
NM_002292.4(LAMB2):c.3772C>G (p.Leu1258Val) rs771785818 0.00004
NM_002292.4(LAMB2):c.3826C>T (p.Leu1276=) rs754393937 0.00004
NM_002292.4(LAMB2):c.4043A>G (p.Asn1348Ser) rs771215576 0.00004
NM_002292.4(LAMB2):c.1383C>T (p.Ile461=) rs373952285 0.00003
NM_002292.4(LAMB2):c.1403G>A (p.Arg468Gln) rs572289637 0.00003
NM_002292.4(LAMB2):c.1423C>T (p.Arg475Trp) rs144487632 0.00003
NM_002292.4(LAMB2):c.1681C>T (p.Arg561Trp) rs748395355 0.00003
NM_002292.4(LAMB2):c.2186T>A (p.Met729Lys) rs376660822 0.00003
NM_002292.4(LAMB2):c.2459A>T (p.Tyr820Phe) rs746761674 0.00003
NM_002292.4(LAMB2):c.2774G>A (p.Arg925Gln) rs536235346 0.00003
NM_002292.4(LAMB2):c.3596G>A (p.Arg1199Gln) rs751242273 0.00003
NM_002292.4(LAMB2):c.4097A>G (p.His1366Arg) rs201519651 0.00003
NM_002292.4(LAMB2):c.4305G>A (p.Pro1435=) rs371257983 0.00003
NM_002292.4(LAMB2):c.4742G>A (p.Arg1581His) rs149601073 0.00003
NM_002292.4(LAMB2):c.4863C>G (p.Ala1621=) rs753340192 0.00003
NM_002292.4(LAMB2):c.1196A>G (p.Lys399Arg) rs749901949 0.00002
NM_002292.4(LAMB2):c.1477del (p.Cys493fs) rs969481454 0.00002
NM_002292.4(LAMB2):c.1518+5G>A rs768311062 0.00002
NM_002292.4(LAMB2):c.1682G>A (p.Arg561Gln) rs866448113 0.00002
NM_002292.4(LAMB2):c.1930C>T (p.Arg644Cys) rs766396792 0.00002
NM_002292.4(LAMB2):c.2296G>A (p.Ala766Thr) rs763101025 0.00002
NM_002292.4(LAMB2):c.2810G>A (p.Arg937Gln) rs201235061 0.00002
NM_002292.4(LAMB2):c.2840A>T (p.Glu947Val) rs753039246 0.00002
NM_002292.4(LAMB2):c.2870G>A (p.Arg957Gln) rs764846938 0.00002
NM_002292.4(LAMB2):c.4307G>A (p.Arg1436His) rs377526198 0.00002
NM_002292.4(LAMB2):c.4469G>A (p.Arg1490Gln) rs533452341 0.00002
NM_002292.4(LAMB2):c.4877G>A (p.Arg1626Gln) rs752674803 0.00002
NM_002292.4(LAMB2):c.4897C>T (p.Arg1633Trp) rs763067343 0.00002
NM_002292.4(LAMB2):c.583C>T (p.Arg195Trp) rs147986864 0.00002
NM_002292.4(LAMB2):c.1074C>T (p.Phe358=) rs765736533 0.00001
NM_002292.4(LAMB2):c.1329T>C (p.His443=) rs1131787 0.00001
NM_002292.4(LAMB2):c.1357C>T (p.Arg453Cys) rs765252703 0.00001
NM_002292.4(LAMB2):c.1358G>A (p.Arg453His) rs1428596182 0.00001
NM_002292.4(LAMB2):c.1392T>A (p.Arg464=) rs922993666 0.00001
NM_002292.4(LAMB2):c.149C>T (p.Ala50Val) rs758825199 0.00001
NM_002292.4(LAMB2):c.1518+4C>T rs902115828 0.00001
NM_002292.4(LAMB2):c.1519-5T>C rs1242908578 0.00001
NM_002292.4(LAMB2):c.1564del (p.Cys522fs) rs1377725272 0.00001
NM_002292.4(LAMB2):c.1882G>C (p.Glu628Gln) rs763825655 0.00001
NM_002292.4(LAMB2):c.1949C>A (p.Ala650Asp) rs777022967 0.00001
NM_002292.4(LAMB2):c.2090G>A (p.Arg697Gln) rs764642268 0.00001
NM_002292.4(LAMB2):c.2330A>G (p.Tyr777Cys) rs772581224 0.00001
NM_002292.4(LAMB2):c.252C>T (p.Asp84=) rs750432118 0.00001
NM_002292.4(LAMB2):c.2773C>T (p.Arg925Trp) rs190191113 0.00001
NM_002292.4(LAMB2):c.2961G>C (p.Glu987Asp) rs146232955 0.00001
NM_002292.4(LAMB2):c.2984T>C (p.Met995Thr) rs769328932 0.00001
NM_002292.4(LAMB2):c.3036C>A (p.His1012Gln) rs777538430 0.00001
NM_002292.4(LAMB2):c.3088G>A (p.Ala1030Thr) rs879255374 0.00001
NM_002292.4(LAMB2):c.3109C>T (p.Arg1037Cys) rs201159870 0.00001
NM_002292.4(LAMB2):c.3763A>G (p.Thr1255Ala) rs1180166011 0.00001
NM_002292.4(LAMB2):c.3798-17C>G rs777266280 0.00001
NM_002292.4(LAMB2):c.4037G>A (p.Arg1346His) rs149144377 0.00001
NM_002292.4(LAMB2):c.4060G>A (p.Val1354Ile) rs1013824488 0.00001
NM_002292.4(LAMB2):c.440A>G (p.His147Arg) rs387906644 0.00001
NM_002292.4(LAMB2):c.4712C>T (p.Ala1571Val) rs371490301 0.00001
NM_002292.4(LAMB2):c.47G>C (p.Trp16Ser) rs1051360734 0.00001
NM_002292.4(LAMB2):c.4848G>A (p.Arg1616=) rs567190427 0.00001
NM_002292.4(LAMB2):c.4954G>A (p.Ala1652Thr) rs1294654447 0.00001
NM_002292.4(LAMB2):c.527G>A (p.Arg176Gln) rs924410863 0.00001
NM_002292.4(LAMB2):c.713-3C>T rs775876911 0.00001
NM_002292.4(LAMB2):c.736C>T (p.Arg246Trp) rs121912488 0.00001
NM_002292.4(LAMB2):c.872A>G (p.Glu291Gly) rs757452525 0.00001
NM_002292.4(LAMB2):c.922G>A (p.Gly308Arg) rs774169261 0.00001
NM_002292.4(LAMB2):c.951T>A (p.Arg317=) rs755050242 0.00001
NM_002292.4(LAMB2):c.1276del (p.His426fs) rs2107643346
NM_002292.4(LAMB2):c.1519-6G>A rs755545118
NM_002292.4(LAMB2):c.1683G>T (p.Arg561=) rs760427008
NM_002292.4(LAMB2):c.173G>A (p.Arg58Gln) rs2107645705
NM_002292.4(LAMB2):c.1750C>T (p.Arg584Cys) rs369408727
NM_002292.4(LAMB2):c.2092A>C (p.Thr698Pro) rs369063535
NM_002292.4(LAMB2):c.2165C>A (p.Pro722His) rs764955129
NM_002292.4(LAMB2):c.2290G>A (p.Ala764Thr) rs1481245527
NM_002292.4(LAMB2):c.2344C>T (p.Pro782Ser) rs199837675
NM_002292.4(LAMB2):c.2521A>C (p.Ser841Arg) rs950013669
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.2644C>T (p.His882Tyr) rs751697643
NM_002292.4(LAMB2):c.284G>C (p.Arg95Pro) rs147691227
NM_002292.4(LAMB2):c.3038A>G (p.His1013Arg) rs2045392366
NM_002292.4(LAMB2):c.3157_3159del (p.Pro1053del) rs756027369
NM_002292.4(LAMB2):c.3644C>G (p.Ala1215Gly) rs140456179
NM_002292.4(LAMB2):c.3718A>G (p.Ile1240Val) rs1447852720
NM_002292.4(LAMB2):c.3798-16del rs750912455
NM_002292.4(LAMB2):c.3811G>A (p.Glu1271Lys) rs1560071889
NM_002292.4(LAMB2):c.4224+19G>A rs114913744
NM_002292.4(LAMB2):c.4323C>G (p.Ser1441Arg) rs1575531255
NM_002292.4(LAMB2):c.5061G>T (p.Thr1687=) rs150465100
NM_002292.4(LAMB2):c.762G>A (p.Thr254=) rs201406827
NM_002292.4(LAMB2):c.903T>A (p.His301Gln) rs565877727

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