ClinVar Miner

List of variants reported as uncertain significance for Pierson syndrome by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 446
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HGVS dbSNP gnomAD frequency
NM_002292.4(LAMB2):c.4118A>G (p.Asp1373Gly) rs112933248 0.00076
NM_002292.4(LAMB2):c.598G>A (p.Val200Ile) rs149325182 0.00034
NM_002292.4(LAMB2):c.5039C>T (p.Ala1680Val) rs141473691 0.00033
NM_002292.4(LAMB2):c.4304C>T (p.Pro1435Leu) rs140968382 0.00032
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.2271C>A (p.Ser757Arg) rs143405268 0.00021
NM_002292.4(LAMB2):c.5233G>A (p.Ala1745Thr) rs142041381 0.00021
NM_002292.4(LAMB2):c.3674G>A (p.Gly1225Asp) rs150013302 0.00019
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.1558C>T (p.Arg520Cys) rs36050330 0.00016
NM_002292.4(LAMB2):c.2432G>A (p.Arg811His) rs201223945 0.00014
NM_002292.4(LAMB2):c.2434C>T (p.Arg812Cys) rs151134957 0.00014
NM_002292.4(LAMB2):c.284G>A (p.Arg95His) rs147691227 0.00014
NM_002292.4(LAMB2):c.4070C>T (p.Pro1357Leu) rs141074838 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.5213C>T (p.Ala1738Val) rs139156815 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.4444C>T (p.Arg1482Trp) rs755963903 0.00011
NM_002292.4(LAMB2):c.4694G>T (p.Ser1565Ile) rs373872524 0.00011
NM_002292.4(LAMB2):c.2167C>T (p.Arg723Cys) rs145660751 0.00010
NM_002292.4(LAMB2):c.5108G>A (p.Arg1703His) rs771531508 0.00010
NM_002292.4(LAMB2):c.2639A>G (p.Asn880Ser) rs781619412 0.00009
NM_002292.4(LAMB2):c.4274G>C (p.Gly1425Ala) rs141317511 0.00009
NM_002292.4(LAMB2):c.4958T>C (p.Leu1653Pro) rs200761921 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.1327C>T (p.His443Tyr) rs200732790 0.00006
NM_002292.4(LAMB2):c.1750C>A (p.Arg584Ser) rs369408727 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.3232C>T (p.Arg1078Cys) rs143284092 0.00006
NM_002292.4(LAMB2):c.3641G>A (p.Arg1214Gln) rs202135107 0.00006
NM_002292.4(LAMB2):c.385+5G>A rs540191089 0.00006
NM_002292.4(LAMB2):c.4573+5G>A rs372438959 0.00006
NM_002292.4(LAMB2):c.4951C>T (p.Arg1651Trp) rs200165604 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.1552G>A (p.Gly518Ser) rs567153631 0.00004
NM_002292.4(LAMB2):c.1789T>C (p.Ser597Pro) rs764346736 0.00004
NM_002292.4(LAMB2):c.2089C>T (p.Arg697Trp) rs149304508 0.00004
NM_002292.4(LAMB2):c.2152C>T (p.Leu718=) rs756535650 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.2578C>T (p.Arg860Cys) rs563405094 0.00004
NM_002292.4(LAMB2):c.3221C>T (p.Pro1074Leu) rs753249251 0.00004
NM_002292.4(LAMB2):c.3442C>T (p.Arg1148Cys) rs762984990 0.00004
NM_002292.4(LAMB2):c.3494G>A (p.Arg1165His) rs374189761 0.00004
NM_002292.4(LAMB2):c.359G>A (p.Arg120Gln) rs767595866 0.00004
NM_002292.4(LAMB2):c.3619C>T (p.Arg1207Cys) rs372032732 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.4001G>C (p.Arg1334Pro) rs144783830 0.00004
NM_002292.4(LAMB2):c.4043A>G (p.Asn1348Ser) rs771215576 0.00004
NM_002292.4(LAMB2):c.4858A>G (p.Ile1620Val) rs778561883 0.00004
NM_002292.4(LAMB2):c.5020C>T (p.Arg1674Trp) rs138816491 0.00004
NM_002292.4(LAMB2):c.5021G>A (p.Arg1674Gln) rs764128779 0.00004
NM_002292.4(LAMB2):c.115G>A (p.Val39Met) rs541668395 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.2219G>A (p.Arg740His) rs781721930 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.3026G>A (p.Arg1009His) rs776023210 0.00003
NM_002292.4(LAMB2):c.3044A>T (p.Glu1015Val) rs1269838719 0.00003
NM_002292.4(LAMB2):c.3330C>G (p.Phe1110Leu) rs145578707 0.00003
NM_002292.4(LAMB2):c.3596G>A (p.Arg1199Gln) rs751242273 0.00003
NM_002292.4(LAMB2):c.3620G>A (p.Arg1207His) rs1447799031 0.00003
NM_002292.4(LAMB2):c.4097A>G (p.His1366Arg) rs201519651 0.00003
NM_002292.4(LAMB2):c.4742G>A (p.Arg1581His) rs149601073 0.00003
NM_002292.4(LAMB2):c.646G>A (p.Glu216Lys) rs368339529 0.00003
NM_002292.4(LAMB2):c.661G>A (p.Val221Met) rs748711014 0.00003
NM_002292.4(LAMB2):c.8T>C (p.Leu3Pro) rs373955878 0.00003
NM_002292.4(LAMB2):c.1018C>T (p.His340Tyr) rs903919410 0.00002
NM_002292.4(LAMB2):c.1169G>A (p.Arg390Gln) rs151276385 0.00002
NM_002292.4(LAMB2):c.1196A>G (p.Lys399Arg) rs749901949 0.00002
NM_002292.4(LAMB2):c.1222C>T (p.Arg408Cys) rs759728774 0.00002
NM_002292.4(LAMB2):c.1518+5G>A rs768311062 0.00002
NM_002292.4(LAMB2):c.1573G>A (p.Asp525Asn) rs200694459 0.00002
NM_002292.4(LAMB2):c.1738G>A (p.Asp580Asn) rs779353027 0.00002
NM_002292.4(LAMB2):c.1768G>A (p.Glu590Lys) rs1405443471 0.00002
NM_002292.4(LAMB2):c.1930C>T (p.Arg644Cys) rs766396792 0.00002
NM_002292.4(LAMB2):c.2061C>G (p.Ile687Met) rs912735454 0.00002
NM_002292.4(LAMB2):c.2179C>G (p.Leu727Val) rs760463111 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.2869C>T (p.Arg957Trp) rs372148651 0.00002
NM_002292.4(LAMB2):c.2870G>A (p.Arg957Gln) rs764846938 0.00002
NM_002292.4(LAMB2):c.2891G>A (p.Arg964Gln) rs774551290 0.00002
NM_002292.4(LAMB2):c.2944C>T (p.Arg982Trp) rs530751136 0.00002
NM_002292.4(LAMB2):c.3115A>C (p.Thr1039Pro) rs747604203 0.00002
NM_002292.4(LAMB2):c.3233G>A (p.Arg1078His) rs373712709 0.00002
NM_002292.4(LAMB2):c.3302G>A (p.Arg1101Gln) rs140199337 0.00002
NM_002292.4(LAMB2):c.3662C>T (p.Thr1221Met) rs770277410 0.00002
NM_002292.4(LAMB2):c.395C>T (p.Ala132Val) rs766482429 0.00002
NM_002292.4(LAMB2):c.4094G>A (p.Arg1365Gln) rs375964293 0.00002
NM_002292.4(LAMB2):c.4100G>C (p.Arg1367Pro) rs753524295 0.00002
NM_002292.4(LAMB2):c.4307G>A (p.Arg1436His) rs377526198 0.00002
NM_002292.4(LAMB2):c.4328A>G (p.Asn1443Ser) rs1327659310 0.00002
NM_002292.4(LAMB2):c.4469G>A (p.Arg1490Gln) rs533452341 0.00002
NM_002292.4(LAMB2):c.4516G>A (p.Glu1506Lys) rs1277967384 0.00002
NM_002292.4(LAMB2):c.4690C>T (p.Arg1564Trp) rs780366815 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.1211C>T (p.Pro404Leu) rs760505149 0.00001
NM_002292.4(LAMB2):c.1261G>A (p.Gly421Ser) rs762273762 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.1394_1396del (p.Leu465_Gly466delinsArg) rs1277599013 0.00001
NM_002292.4(LAMB2):c.1498C>T (p.Arg500Cys) rs199518288 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.1543G>A (p.Asp515Asn) rs1255092475 0.00001
NM_002292.4(LAMB2):c.1651C>T (p.Arg551Cys) rs766282298 0.00001
NM_002292.4(LAMB2):c.1802G>A (p.Arg601Gln) rs760060166 0.00001
NM_002292.4(LAMB2):c.1862A>G (p.Tyr621Cys) rs373861923 0.00001
NM_002292.4(LAMB2):c.1877G>A (p.Arg626His) rs747329371 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.2168G>A (p.Arg723His) rs542505535 0.00001
NM_002292.4(LAMB2):c.2237G>A (p.Arg746His) rs141407145 0.00001
NM_002292.4(LAMB2):c.2258G>T (p.Gly753Val) rs780591744 0.00001
NM_002292.4(LAMB2):c.2297C>T (p.Ala766Val) rs773407518 0.00001
NM_002292.4(LAMB2):c.2330A>G (p.Tyr777Cys) rs772581224 0.00001
NM_002292.4(LAMB2):c.2435G>A (p.Arg812His) rs886058674 0.00001
NM_002292.4(LAMB2):c.2470G>A (p.Gly824Ser) rs775759513 0.00001
NM_002292.4(LAMB2):c.2513C>T (p.Ala838Val) rs1347865651 0.00001
NM_002292.4(LAMB2):c.2579G>A (p.Arg860His) rs768251178 0.00001
NM_002292.4(LAMB2):c.2611T>C (p.Phe871Leu) rs770943083 0.00001
NM_002292.4(LAMB2):c.2661C>A (p.Asn887Lys) rs1461585400 0.00001
NM_002292.4(LAMB2):c.2690G>A (p.Arg897His) rs375392013 0.00001
NM_002292.4(LAMB2):c.2726T>C (p.Ile909Thr) rs201756319 0.00001
NM_002292.4(LAMB2):c.2749C>T (p.Arg917Trp) rs754155232 0.00001
NM_002292.4(LAMB2):c.2773C>T (p.Arg925Trp) rs190191113 0.00001
NM_002292.4(LAMB2):c.2903G>A (p.Cys968Tyr) rs771183113 0.00001
NM_002292.4(LAMB2):c.2908C>T (p.Pro970Ser) rs1271329821 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.3109C>T (p.Arg1037Cys) rs201159870 0.00001
NM_002292.4(LAMB2):c.3118T>A (p.Cys1040Ser) rs149560677 0.00001
NM_002292.4(LAMB2):c.3123C>A (p.Asn1041Lys) rs754842572 0.00001
NM_002292.4(LAMB2):c.3287C>A (p.Ala1096Asp) rs746590503 0.00001
NM_002292.4(LAMB2):c.3547A>G (p.Ile1183Val) rs370877359 0.00001
NM_002292.4(LAMB2):c.358C>T (p.Arg120Trp) rs1271143265 0.00001
NM_002292.4(LAMB2):c.3640C>T (p.Arg1214Trp) rs760524944 0.00001
NM_002292.4(LAMB2):c.3664G>C (p.Gly1222Arg) rs748563846 0.00001
NM_002292.4(LAMB2):c.3708G>T (p.Glu1236Asp) rs753707094 0.00001
NM_002292.4(LAMB2):c.3727G>C (p.Gly1243Arg) rs755874006 0.00001
NM_002292.4(LAMB2):c.3763A>G (p.Thr1255Ala) rs1180166011 0.00001
NM_002292.4(LAMB2):c.3806T>C (p.Ile1269Thr) rs750462831 0.00001
NM_002292.4(LAMB2):c.3838G>A (p.Glu1280Lys) rs532092193 0.00001
NM_002292.4(LAMB2):c.3973A>G (p.Asn1325Asp) rs776150106 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.4139A>G (p.Asn1380Ser) rs372463037 0.00001
NM_002292.4(LAMB2):c.4157A>G (p.Asn1386Ser) rs769093652 0.00001
NM_002292.4(LAMB2):c.431A>G (p.His144Arg) rs765594517 0.00001
NM_002292.4(LAMB2):c.4363C>T (p.Arg1455Trp) rs901971113 0.00001
NM_002292.4(LAMB2):c.4367C>T (p.Ala1456Val) rs1040319445 0.00001
NM_002292.4(LAMB2):c.4393C>T (p.Arg1465Trp) rs771487133 0.00001
NM_002292.4(LAMB2):c.4459G>T (p.Ala1487Ser) rs917006966 0.00001
NM_002292.4(LAMB2):c.4613C>T (p.Thr1538Ile) rs781065313 0.00001
NM_002292.4(LAMB2):c.4645G>T (p.Ala1549Ser) rs764494090 0.00001
NM_002292.4(LAMB2):c.4676T>C (p.Ile1559Thr) rs748097623 0.00001
NM_002292.4(LAMB2):c.467G>A (p.Arg156His) rs1378409559 0.00001
NM_002292.4(LAMB2):c.4712C>T (p.Ala1571Val) rs371490301 0.00001
NM_002292.4(LAMB2):c.4723C>T (p.Arg1575Cys) rs754337557 0.00001
NM_002292.4(LAMB2):c.4741C>T (p.Arg1581Cys) rs374187759 0.00001
NM_002292.4(LAMB2):c.47G>C (p.Trp16Ser) rs1051360734 0.00001
NM_002292.4(LAMB2):c.4874T>A (p.Ile1625Asn) rs763488594 0.00001
NM_002292.4(LAMB2):c.4882G>A (p.Ala1628Thr) rs774017887 0.00001
NM_002292.4(LAMB2):c.4888G>A (p.Ala1630Thr) rs144938183 0.00001
NM_002292.4(LAMB2):c.5155C>T (p.Arg1719Cys) rs201458234 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.872A>G (p.Glu291Gly) rs757452525 0.00001
NM_002292.4(LAMB2):c.922G>A (p.Gly308Arg) rs774169261 0.00001
NM_002292.4(LAMB2):c.938A>G (p.Lys313Arg) rs770959758 0.00001
NM_002292.4(LAMB2):c.950G>A (p.Arg317His) rs144771072 0.00001
NC_000003.12:g.49122085_49122087del
NM_002292.4(LAMB2):c.1000C>A (p.Arg334Ser) rs187004232
NM_002292.4(LAMB2):c.1001G>A (p.Arg334His)
NM_002292.4(LAMB2):c.1023T>A (p.Ser341Arg) rs1308318910
NM_002292.4(LAMB2):c.103C>T (p.Pro35Ser)
NM_002292.4(LAMB2):c.107C>T (p.Ala36Val)
NM_002292.4(LAMB2):c.1082C>T (p.Ala361Val) rs1270231900
NM_002292.4(LAMB2):c.1117G>A (p.Val373Met)
NM_002292.4(LAMB2):c.1150C>T (p.Arg384Cys)
NM_002292.4(LAMB2):c.1168C>T (p.Arg390Trp)
NM_002292.4(LAMB2):c.116T>A (p.Val39Glu)
NM_002292.4(LAMB2):c.1183C>G (p.Arg395Gly) rs967800410
NM_002292.4(LAMB2):c.1222C>A (p.Arg408Ser) rs759728774
NM_002292.4(LAMB2):c.1223G>A (p.Arg408His)
NM_002292.4(LAMB2):c.1224C>T (p.Arg408=)
NM_002292.4(LAMB2):c.1257C>A (p.Asp419Glu) rs146643686
NM_002292.4(LAMB2):c.1258G>A (p.Gly420Ser)
NM_002292.4(LAMB2):c.1262G>A (p.Gly421Asp)
NM_002292.4(LAMB2):c.1316G>A (p.Arg439His)
NM_002292.4(LAMB2):c.1352A>G (p.Gln451Arg) rs1575535913
NM_002292.4(LAMB2):c.1386T>G (p.Ser462Arg)
NM_002292.4(LAMB2):c.1406G>A (p.Arg469Gln) rs1166721867
NM_002292.4(LAMB2):c.1414T>C (p.Cys472Arg) rs746963326
NM_002292.4(LAMB2):c.1424G>A (p.Arg475Gln)
NM_002292.4(LAMB2):c.1433T>C (p.Val478Ala)
NM_002292.4(LAMB2):c.1459A>G (p.Asn487Asp)
NM_002292.4(LAMB2):c.1511G>A (p.Arg504His)
NM_002292.4(LAMB2):c.1518+3G>A rs2045459387
NM_002292.4(LAMB2):c.152C>T (p.Thr51Met) rs748829288
NM_002292.4(LAMB2):c.1540C>T (p.His514Tyr)
NM_002292.4(LAMB2):c.1576G>A (p.Val526Met)
NM_002292.4(LAMB2):c.1634A>C (p.Gln545Pro)
NM_002292.4(LAMB2):c.1637A>T (p.His546Leu)
NM_002292.4(LAMB2):c.1652G>A (p.Arg551His)
NM_002292.4(LAMB2):c.1654T>C (p.Cys552Arg) rs2045454131
NM_002292.4(LAMB2):c.1668A>C (p.Gln556His) rs2045453433
NM_002292.4(LAMB2):c.1750C>T (p.Arg584Cys) rs369408727
NM_002292.4(LAMB2):c.1799T>C (p.Val600Ala)
NM_002292.4(LAMB2):c.1825G>C (p.Glu609Gln) rs888403715
NM_002292.4(LAMB2):c.1855A>G (p.Met619Val)
NM_002292.4(LAMB2):c.1901A>C (p.Gln634Pro)
NM_002292.4(LAMB2):c.191C>T (p.Ala64Val) rs766047117
NM_002292.4(LAMB2):c.1937G>A (p.Gly646Glu)
NM_002292.4(LAMB2):c.1945C>T (p.Pro649Ser)
NM_002292.4(LAMB2):c.1971G>A (p.Leu657=) rs777566654
NM_002292.4(LAMB2):c.1980G>A (p.Lys660=) rs2107642118
NM_002292.4(LAMB2):c.1987C>T (p.Arg663Cys)
NM_002292.4(LAMB2):c.2019G>A (p.Arg673=) rs748124251
NM_002292.4(LAMB2):c.2063C>G (p.Ser688Cys)
NM_002292.4(LAMB2):c.2068A>C (p.Lys690Gln) rs1231932718
NM_002292.4(LAMB2):c.2092A>C (p.Thr698Pro) rs369063535
NM_002292.4(LAMB2):c.2099G>C (p.Gly700Ala) rs142860588
NM_002292.4(LAMB2):c.2102G>T (p.Ser701Ile)
NM_002292.4(LAMB2):c.2150C>T (p.Ser717Leu) rs374417189
NM_002292.4(LAMB2):c.2151G>A (p.Ser717=)
NM_002292.4(LAMB2):c.2165C>A (p.Pro722His) rs764955129
NM_002292.4(LAMB2):c.2167C>G (p.Arg723Gly)
NM_002292.4(LAMB2):c.2170G>T (p.Val724Phe) rs1466437719
NM_002292.4(LAMB2):c.217C>G (p.Pro73Ala) rs1409779718
NM_002292.4(LAMB2):c.2219G>T (p.Arg740Leu) rs781721930
NM_002292.4(LAMB2):c.2222A>C (p.Gln741Pro)
NM_002292.4(LAMB2):c.2224G>A (p.Ala742Thr) rs959473971
NM_002292.4(LAMB2):c.2263G>C (p.Val755Leu) rs1560073886
NM_002292.4(LAMB2):c.2270G>A (p.Ser757Asn)
NM_002292.4(LAMB2):c.2284T>C (p.Ser762Pro) rs752188860
NM_002292.4(LAMB2):c.2290G>A (p.Ala764Thr) rs1481245527
NM_002292.4(LAMB2):c.2336G>A (p.Gly779Asp) rs200858061
NM_002292.4(LAMB2):c.2339C>T (p.Ala780Val) rs2107640102
NM_002292.4(LAMB2):c.2344+4_2344+7del rs774329010
NM_002292.4(LAMB2):c.2344C>T (p.Pro782Ser) rs199837675
NM_002292.4(LAMB2):c.2352G>T (p.Gln784His)
NM_002292.4(LAMB2):c.2357A>G (p.Asn786Ser)
NM_002292.4(LAMB2):c.2364_2393del (p.Gln788_Pro797del) rs2107640007
NM_002292.4(LAMB2):c.2390C>G (p.Pro797Arg)
NM_002292.4(LAMB2):c.2398G>A (p.Gly800Ser)
NM_002292.4(LAMB2):c.2408T>C (p.Leu803Pro) rs200477330
NM_002292.4(LAMB2):c.241C>T (p.His81Tyr)
NM_002292.4(LAMB2):c.2420G>T (p.Gly807Val) rs200740666
NM_002292.4(LAMB2):c.2429G>A (p.Gly810Glu)
NM_002292.4(LAMB2):c.2450C>T (p.Ala817Val)
NM_002292.4(LAMB2):c.2473C>T (p.Pro825Ser)
NM_002292.4(LAMB2):c.2480G>T (p.Gly827Val)
NM_002292.4(LAMB2):c.2488+12C>A
NM_002292.4(LAMB2):c.2489C>T (p.Ala830Val) rs2045403063
NM_002292.4(LAMB2):c.249+3G>A
NM_002292.4(LAMB2):c.2509G>A (p.Gly837Arg) rs2107639681
NM_002292.4(LAMB2):c.2521A>C (p.Ser841Arg) rs950013669
NM_002292.4(LAMB2):c.2552T>C (p.Leu851Pro)
NM_002292.4(LAMB2):c.2558G>A (p.Arg853Gln) rs774703538
NM_002292.4(LAMB2):c.2558G>T (p.Arg853Leu) rs774703538
NM_002292.4(LAMB2):c.2573G>A (p.Gly858Glu)
NM_002292.4(LAMB2):c.2597G>C (p.Arg866Pro) rs745441757
NM_002292.4(LAMB2):c.261G>C (p.Lys87Asn) rs149408554
NM_002292.4(LAMB2):c.2626C>T (p.Pro876Ser) rs200108816
NM_002292.4(LAMB2):c.2630G>T (p.Cys877Phe) rs2107639559
NM_002292.4(LAMB2):c.2644C>T (p.His882Tyr) rs751697643
NM_002292.4(LAMB2):c.2698A>G (p.Thr900Ala)
NM_002292.4(LAMB2):c.2702G>C (p.Gly901Ala) rs781530275
NM_002292.4(LAMB2):c.2711A>G (p.His904Arg) rs1238240581
NM_002292.4(LAMB2):c.2713T>C (p.Cys905Arg)
NM_002292.4(LAMB2):c.2756C>T (p.Pro919Leu)
NM_002292.4(LAMB2):c.2765G>T (p.Gly922Val)
NM_002292.4(LAMB2):c.283C>A (p.Arg95Ser)
NM_002292.4(LAMB2):c.283C>T (p.Arg95Cys)
NM_002292.4(LAMB2):c.284G>C (p.Arg95Pro) rs147691227
NM_002292.4(LAMB2):c.2854A>T (p.Ile952Phe) rs146962414
NM_002292.4(LAMB2):c.2862C>G (p.Cys954Trp) rs1376202280
NM_002292.4(LAMB2):c.2879A>G (p.Tyr960Cys)
NM_002292.4(LAMB2):c.2883G>C (p.Thr961=) rs1205212867
NM_002292.4(LAMB2):c.2923G>A (p.Asp975Asn)
NM_002292.4(LAMB2):c.2936C>G (p.Pro979Arg) rs1575532774
NM_002292.4(LAMB2):c.2957G>A (p.Cys986Tyr) rs2045393494
NM_002292.4(LAMB2):c.3012G>A (p.Thr1004=)
NM_002292.4(LAMB2):c.3025C>T (p.Arg1009Cys)
NM_002292.4(LAMB2):c.302A>G (p.Asp101Gly)
NM_002292.4(LAMB2):c.3038A>G (p.His1013Arg) rs2045392366
NM_002292.4(LAMB2):c.3052C>G (p.His1018Asp)
NM_002292.4(LAMB2):c.3059C>A (p.Ala1020Asp) rs780053995
NM_002292.4(LAMB2):c.3095G>A (p.Arg1032Gln)
NM_002292.4(LAMB2):c.3110-3C>T rs2045390515
NM_002292.4(LAMB2):c.3154T>C (p.Ser1052Pro) rs2107638715
NM_002292.4(LAMB2):c.3157_3159del (p.Pro1053del) rs756027369
NM_002292.4(LAMB2):c.3170A>G (p.His1057Arg) rs2107638700
NM_002292.4(LAMB2):c.3192G>C (p.Gln1064His) rs1553778039
NM_002292.4(LAMB2):c.3200G>A (p.Cys1067Tyr)
NM_002292.4(LAMB2):c.3241C>T (p.Pro1081Ser) rs1247420057
NM_002292.4(LAMB2):c.3413T>G (p.Leu1138Trp) rs1404267963
NM_002292.4(LAMB2):c.3424+15G>A
NM_002292.4(LAMB2):c.3425C>G (p.Ala1142Gly)
NM_002292.4(LAMB2):c.3427T>C (p.Cys1143Arg) rs774018819
NM_002292.4(LAMB2):c.3464G>A (p.Cys1155Tyr)
NM_002292.4(LAMB2):c.3493C>T (p.Arg1165Cys) rs746391965
NM_002292.4(LAMB2):c.3521A>C (p.Asp1174Ala) rs765996794
NM_002292.4(LAMB2):c.3560G>A (p.Cys1187Tyr) rs760892618
NM_002292.4(LAMB2):c.3583G>T (p.Gly1195Trp)
NM_002292.4(LAMB2):c.3598G>C (p.Val1200Leu)
NM_002292.4(LAMB2):c.3612G>C (p.Leu1204Phe)
NM_002292.4(LAMB2):c.3613G>A (p.Ala1205Thr) rs953343840
NM_002292.4(LAMB2):c.3628C>T (p.Arg1210Cys)
NM_002292.4(LAMB2):c.3644C>G (p.Ala1215Gly) rs140456179
NM_002292.4(LAMB2):c.3659A>T (p.Gln1220Leu) rs2107638059
NM_002292.4(LAMB2):c.3718A>G (p.Ile1240Val) rs1447852720
NM_002292.4(LAMB2):c.3764C>G (p.Thr1255Ser)
NM_002292.4(LAMB2):c.3800G>A (p.Arg1267His)
NM_002292.4(LAMB2):c.3842C>T (p.Ala1281Val)
NM_002292.4(LAMB2):c.3856G>A (p.Val1286Met)
NM_002292.4(LAMB2):c.3875A>G (p.Asn1292Ser) rs148246465
NM_002292.4(LAMB2):c.3887C>T (p.Ala1296Val) rs1260666701
NM_002292.4(LAMB2):c.3928A>C (p.Thr1310Pro) rs2045374454
NM_002292.4(LAMB2):c.3935G>A (p.Arg1312Gln)
NM_002292.4(LAMB2):c.396G>A (p.Ala132=)
NM_002292.4(LAMB2):c.3989A>G (p.Tyr1330Cys)
NM_002292.4(LAMB2):c.4001G>A (p.Arg1334Gln) rs144783830
NM_002292.4(LAMB2):c.4004A>G (p.His1335Arg) rs775944984
NM_002292.4(LAMB2):c.4007C>G (p.Ala1336Gly) rs886058672
NM_002292.4(LAMB2):c.4013G>A (p.Ser1338Asn)
NM_002292.4(LAMB2):c.4033C>T (p.Arg1345Cys) rs775469931
NM_002292.4(LAMB2):c.4039G>A (p.Ala1347Thr) rs2107637483
NM_002292.4(LAMB2):c.4067G>A (p.Ser1356Asn) rs2045371078
NM_002292.4(LAMB2):c.4075A>G (p.Ser1359Gly) rs2107637455
NM_002292.4(LAMB2):c.4093C>T (p.Arg1365Trp)
NM_002292.4(LAMB2):c.4133A>G (p.Asp1378Gly)
NM_002292.4(LAMB2):c.4150A>T (p.Met1384Leu) rs781135874
NM_002292.4(LAMB2):c.4171G>C (p.Gly1391Arg)
NM_002292.4(LAMB2):c.4212C>A (p.Asp1404Glu)
NM_002292.4(LAMB2):c.4304C>G (p.Pro1435Arg)
NM_002292.4(LAMB2):c.4323C>G (p.Ser1441Arg) rs1575531255
NM_002292.4(LAMB2):c.4349A>G (p.Asp1450Gly) rs2107637062
NM_002292.4(LAMB2):c.4364G>C (p.Arg1455Pro)
NM_002292.4(LAMB2):c.4394G>A (p.Arg1465Gln)
NM_002292.4(LAMB2):c.4415G>C (p.Ser1472Thr) rs1377720264
NM_002292.4(LAMB2):c.4442G>A (p.Arg1481His)
NM_002292.4(LAMB2):c.4460C>T (p.Ala1487Val) rs2107636624
NM_002292.4(LAMB2):c.4488C>A (p.Asp1496Glu)
NM_002292.4(LAMB2):c.4498G>C (p.Ala1500Pro) rs1029156575
NM_002292.4(LAMB2):c.4553G>A (p.Ser1518Asn)
NM_002292.4(LAMB2):c.4573+6C>T
NM_002292.4(LAMB2):c.4666G>A (p.Ala1556Thr)
NM_002292.4(LAMB2):c.4673C>T (p.Ala1558Val)
NM_002292.4(LAMB2):c.4678G>A (p.Ala1560Thr) rs768495334
NM_002292.4(LAMB2):c.469C>T (p.Pro157Ser) rs2107644945
NM_002292.4(LAMB2):c.4702G>A (p.Asp1568Asn)
NM_002292.4(LAMB2):c.4729G>A (p.Val1577Ile)
NM_002292.4(LAMB2):c.473C>G (p.Ala158Gly)
NM_002292.4(LAMB2):c.4744C>T (p.Arg1582Cys)
NM_002292.4(LAMB2):c.4751A>G (p.Glu1584Gly) rs768491835
NM_002292.4(LAMB2):c.4753C>A (p.Gln1585Lys)
NM_002292.4(LAMB2):c.4778C>A (p.Ala1593Glu) rs1011098102
NM_002292.4(LAMB2):c.4802A>T (p.Lys1601Ile)
NM_002292.4(LAMB2):c.4816A>G (p.Thr1606Ala)
NM_002292.4(LAMB2):c.4821_4822delinsGA (p.Gln1608Lys) rs1560066776
NM_002292.4(LAMB2):c.4837G>A (p.Glu1613Lys)
NM_002292.4(LAMB2):c.4856G>A (p.Gly1619Asp) rs1318044416
NM_002292.4(LAMB2):c.4867G>A (p.Gly1623Ser)
NM_002292.4(LAMB2):c.4877G>C (p.Arg1626Pro) rs752674803
NM_002292.4(LAMB2):c.4898G>A (p.Arg1633Gln)
NM_002292.4(LAMB2):c.490C>T (p.Arg164Cys)
NM_002292.4(LAMB2):c.4919A>G (p.Tyr1640Cys) rs2045287048
NM_002292.4(LAMB2):c.491G>A (p.Arg164His) rs1187799924
NM_002292.4(LAMB2):c.4943G>A (p.Gly1648Asp) rs1271985841
NM_002292.4(LAMB2):c.4943G>T (p.Gly1648Val)
NM_002292.4(LAMB2):c.494C>T (p.Ser165Leu) rs2107644925
NM_002292.4(LAMB2):c.4967C>A (p.Ala1656Glu) rs2045271641
NM_002292.4(LAMB2):c.496G>A (p.Ala166Thr)
NM_002292.4(LAMB2):c.4982G>A (p.Arg1661Gln)
NM_002292.4(LAMB2):c.5100+6T>C
NM_002292.4(LAMB2):c.5135C>A (p.Thr1712Lys) rs752667133
NM_002292.4(LAMB2):c.5156G>A (p.Arg1719His) rs1188203180
NM_002292.4(LAMB2):c.5159A>C (p.Lys1720Thr) rs2107624064
NM_002292.4(LAMB2):c.5186C>T (p.Ala1729Val) rs2045242099
NM_002292.4(LAMB2):c.5188_5193del (p.Arg1730_Ala1731del)
NM_002292.4(LAMB2):c.5210A>C (p.Glu1737Ala) rs2107623479
NM_002292.4(LAMB2):c.5230G>C (p.Ala1744Pro) rs1416518681
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.52C>T (p.Leu18Phe)
NM_002292.4(LAMB2):c.5329G>A (p.Glu1777Lys) rs2045220448
NM_002292.4(LAMB2):c.560C>A (p.Pro187Gln)
NM_002292.4(LAMB2):c.584G>A (p.Arg195Gln)
NM_002292.4(LAMB2):c.594T>G (p.Asp198Glu) rs1344838792
NM_002292.4(LAMB2):c.605G>A (p.Cys202Tyr) rs1575537041
NM_002292.4(LAMB2):c.624G>T (p.Glu208Asp)
NM_002292.4(LAMB2):c.656A>G (p.Tyr219Cys)
NM_002292.4(LAMB2):c.659G>A (p.Arg220His)
NM_002292.4(LAMB2):c.661G>T (p.Val221Leu) rs748711014
NM_002292.4(LAMB2):c.682A>G (p.Ile228Val)
NM_002292.4(LAMB2):c.701C>T (p.Ser234Leu) rs2107644618
NM_002292.4(LAMB2):c.704G>A (p.Arg235Gln)
NM_002292.4(LAMB2):c.704G>T (p.Arg235Leu) rs767154519
NM_002292.4(LAMB2):c.731A>C (p.Asn244Thr)
NM_002292.4(LAMB2):c.781G>A (p.Asp261Asn)
NM_002292.4(LAMB2):c.781G>T (p.Asp261Tyr)
NM_002292.4(LAMB2):c.794A>C (p.Glu265Ala) rs903021924
NM_002292.4(LAMB2):c.824A>C (p.Tyr275Ser) rs2107644271
NM_002292.4(LAMB2):c.839G>A (p.Arg280His)
NM_002292.4(LAMB2):c.881C>A (p.Pro294His) rs536441871
NM_002292.4(LAMB2):c.883G>A (p.Ala295Thr)
NM_002292.4(LAMB2):c.889G>A (p.Gly297Arg) rs2107644171
NM_002292.4(LAMB2):c.903T>A (p.His301Gln) rs565877727
NM_002292.4(LAMB2):c.916-10A>G
NM_002292.4(LAMB2):c.986G>A (p.Arg329His)

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