ClinVar Miner

List of variants reported as likely benign for Pierson syndrome by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 299
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HGVS dbSNP gnomAD frequency
NM_002292.4(LAMB2):c.109C>G (p.Pro37Ala) rs144765752 0.00242
NM_002292.4(LAMB2):c.3875A>T (p.Asn1292Ile) rs148246465 0.00175
NM_002292.4(LAMB2):c.1306G>A (p.Gly436Ser) rs142402808 0.00096
NM_002292.4(LAMB2):c.2975T>C (p.Ile992Thr) rs148732023 0.00086
NM_002292.4(LAMB2):c.703C>T (p.Arg235Trp) rs144133177 0.00071
NM_002292.4(LAMB2):c.3582C>T (p.Phe1194=) rs138540017 0.00068
NM_002292.4(LAMB2):c.816T>C (p.Tyr272=) rs151251039 0.00061
NM_002292.4(LAMB2):c.2974A>G (p.Ile992Val) rs529614319 0.00051
NM_002292.4(LAMB2):c.4952G>A (p.Arg1651Gln) rs142896683 0.00032
NM_002292.4(LAMB2):c.2922G>C (p.Gly974=) rs145465720 0.00031
NM_002292.4(LAMB2):c.5142G>A (p.Lys1714=) rs139511264 0.00027
NM_002292.4(LAMB2):c.2322C>G (p.Thr774=) rs142116851 0.00026
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.253G>A (p.Glu85Lys) rs140371771 0.00020
NM_002292.4(LAMB2):c.648+19G>T rs375860511 0.00019
NM_002292.4(LAMB2):c.460-8C>G rs200141829 0.00018
NM_002292.4(LAMB2):c.5109C>T (p.Arg1703=) rs151292828 0.00018
NM_002292.4(LAMB2):c.1797C>T (p.Phe599=) rs376785056 0.00016
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.1014C>T (p.Asp338=) rs150731491 0.00014
NM_002292.4(LAMB2):c.1206G>A (p.Arg402=) rs201999373 0.00012
NM_002292.4(LAMB2):c.2720+11A>G rs370034592 0.00012
NM_002292.4(LAMB2):c.5286T>C (p.Asn1762=) rs781092208 0.00012
NM_002292.4(LAMB2):c.1542C>T (p.His514=) rs150783390 0.00011
NM_002292.4(LAMB2):c.189T>C (p.Thr63=) rs200171185 0.00011
NM_002292.4(LAMB2):c.4425C>T (p.Ser1475=) rs140142444 0.00011
NM_002292.4(LAMB2):c.1575C>T (p.Asp525=) rs138230622 0.00008
NM_002292.4(LAMB2):c.2489-7C>T rs374958213 0.00008
NM_002292.4(LAMB2):c.4225-5G>C rs372161777 0.00008
NM_002292.4(LAMB2):c.2295C>T (p.Cys765=) rs201289156 0.00007
NM_002292.4(LAMB2):c.795G>A (p.Glu265=) rs375953746 0.00007
NM_002292.4(LAMB2):c.1422A>C (p.Ala474=) rs201408584 0.00006
NM_002292.4(LAMB2):c.1890+19A>C rs763388406 0.00006
NM_002292.4(LAMB2):c.3141G>A (p.Pro1047=) rs373002075 0.00006
NM_002292.4(LAMB2):c.3533G>A (p.Arg1178His) rs565229873 0.00006
NM_002292.4(LAMB2):c.4071T>C (p.Pro1357=) rs770830943 0.00006
NM_002292.4(LAMB2):c.915+6G>A rs2071677 0.00006
NM_002292.4(LAMB2):c.1891-11C>T rs778444207 0.00005
NM_002292.4(LAMB2):c.2885-8G>A rs374181186 0.00005
NM_002292.4(LAMB2):c.3324C>T (p.Asn1108=) rs757491995 0.00005
NM_002292.4(LAMB2):c.386-15C>T rs117575041 0.00005
NM_002292.4(LAMB2):c.5260+13G>A rs368567142 0.00005
NM_002292.4(LAMB2):c.1391G>A (p.Arg464His) rs188487818 0.00004
NM_002292.4(LAMB2):c.1572C>T (p.Cys524=) rs111883392 0.00004
NM_002292.4(LAMB2):c.2262G>A (p.Leu754=) rs756931255 0.00004
NM_002292.4(LAMB2):c.2724C>T (p.Cys908=) rs142012138 0.00004
NM_002292.4(LAMB2):c.3756C>T (p.Ala1252=) rs773560262 0.00004
NM_002292.4(LAMB2):c.3797+4C>T rs368346725 0.00004
NM_002292.4(LAMB2):c.3826C>T (p.Leu1276=) rs754393937 0.00004
NM_002292.4(LAMB2):c.4369C>T (p.Arg1457Trp) rs151037751 0.00004
NM_002292.4(LAMB2):c.4749C>T (p.Ala1583=) rs555885061 0.00004
NM_002292.4(LAMB2):c.1383C>T (p.Ile461=) rs373952285 0.00003
NM_002292.4(LAMB2):c.1851G>A (p.Lys617=) rs1131791 0.00003
NM_002292.4(LAMB2):c.2152-5T>C rs774738392 0.00003
NM_002292.4(LAMB2):c.4305G>A (p.Pro1435=) rs371257983 0.00003
NM_002292.4(LAMB2):c.4863C>G (p.Ala1621=) rs753340192 0.00003
NM_002292.4(LAMB2):c.4998C>T (p.Leu1666=) rs143723352 0.00003
NM_002292.4(LAMB2):c.5175G>T (p.Leu1725=) rs773743605 0.00003
NM_002292.4(LAMB2):c.5261-8C>T rs377454604 0.00003
NM_002292.4(LAMB2):c.696C>T (p.Tyr232=) rs183480534 0.00003
NM_002292.4(LAMB2):c.713-7G>A rs200186640 0.00003
NM_002292.4(LAMB2):c.76+10C>T rs370554848 0.00003
NM_002292.4(LAMB2):c.1891-10G>A rs746381319 0.00002
NM_002292.4(LAMB2):c.2727T>C (p.Ile909=) rs376904255 0.00002
NM_002292.4(LAMB2):c.3273T>C (p.Gly1091=) rs369406683 0.00002
NM_002292.4(LAMB2):c.4674G>A (p.Ala1558=) rs769673385 0.00002
NM_002292.4(LAMB2):c.5346C>T (p.Ser1782=) rs754156525 0.00002
NM_002292.4(LAMB2):c.864C>T (p.His288=) rs141473567 0.00002
NM_002292.4(LAMB2):c.1068C>T (p.Cys356=) rs751259636 0.00001
NM_002292.4(LAMB2):c.1074C>T (p.Phe358=) rs765736533 0.00001
NM_002292.4(LAMB2):c.1218G>A (p.Val406=) rs1284533242 0.00001
NM_002292.4(LAMB2):c.1311G>A (p.Gln437=) rs754837577 0.00001
NM_002292.4(LAMB2):c.1329T>C (p.His443=) rs1131787 0.00001
NM_002292.4(LAMB2):c.1392T>A (p.Arg464=) rs922993666 0.00001
NM_002292.4(LAMB2):c.1405+9C>T rs1462037846 0.00001
NM_002292.4(LAMB2):c.1519-5T>C rs1242908578 0.00001
NM_002292.4(LAMB2):c.1551C>T (p.Leu517=) rs761329288 0.00001
NM_002292.4(LAMB2):c.1890+9C>T rs1575535180 0.00001
NM_002292.4(LAMB2):c.1965G>T (p.Gly655=) rs773783751 0.00001
NM_002292.4(LAMB2):c.2019-8G>A rs377396194 0.00001
NM_002292.4(LAMB2):c.216C>T (p.Gly72=) rs768806166 0.00001
NM_002292.4(LAMB2):c.2373G>A (p.Leu791=) rs1478443594 0.00001
NM_002292.4(LAMB2):c.237C>T (p.Val79=) rs973849989 0.00001
NM_002292.4(LAMB2):c.252C>T (p.Asp84=) rs750432118 0.00001
NM_002292.4(LAMB2):c.2720+13C>A rs369359244 0.00001
NM_002292.4(LAMB2):c.2721-10C>T rs747925923 0.00001
NM_002292.4(LAMB2):c.2739C>T (p.His913=) rs750691273 0.00001
NM_002292.4(LAMB2):c.2754G>T (p.Leu918=) rs766013008 0.00001
NM_002292.4(LAMB2):c.3045G>A (p.Glu1015=) rs746638105 0.00001
NM_002292.4(LAMB2):c.3294C>T (p.His1098=) rs376981766 0.00001
NM_002292.4(LAMB2):c.3327+8A>C rs756229789 0.00001
NM_002292.4(LAMB2):c.3573T>C (p.His1191=) rs1343630379 0.00001
NM_002292.4(LAMB2):c.3753A>G (p.Ser1251=) rs771365551 0.00001
NM_002292.4(LAMB2):c.3798-17C>G rs777266280 0.00001
NM_002292.4(LAMB2):c.385+7C>G rs766856881 0.00001
NM_002292.4(LAMB2):c.385+9A>G rs763518000 0.00001
NM_002292.4(LAMB2):c.3870C>T (p.Asn1290=) rs138665073 0.00001
NM_002292.4(LAMB2):c.4224+8T>C rs1417484328 0.00001
NM_002292.4(LAMB2):c.4227G>A (p.Val1409=) rs766376770 0.00001
NM_002292.4(LAMB2):c.4308C>T (p.Arg1436=) rs746450659 0.00001
NM_002292.4(LAMB2):c.4338G>A (p.Ala1446=) rs549450963 0.00001
NM_002292.4(LAMB2):c.4347A>C (p.Ala1449=) rs202083663 0.00001
NM_002292.4(LAMB2):c.4590T>C (p.Pro1530=) rs2045328429 0.00001
NM_002292.4(LAMB2):c.4626G>A (p.Glu1542=) rs754100998 0.00001
NM_002292.4(LAMB2):c.4667C>T (p.Ala1556Val) rs774045808 0.00001
NM_002292.4(LAMB2):c.4668G>A (p.Ala1556=) rs766074746 0.00001
NM_002292.4(LAMB2):c.4722A>G (p.Ala1574=) rs371619654 0.00001
NM_002292.4(LAMB2):c.4781+8C>T rs1287875231 0.00001
NM_002292.4(LAMB2):c.4987T>C (p.Leu1663=) rs371375999 0.00001
NM_002292.4(LAMB2):c.513C>T (p.Thr171=) rs367900776 0.00001
NM_002292.4(LAMB2):c.5205G>T (p.Arg1735=) rs1297843307 0.00001
NM_002292.4(LAMB2):c.5261-7T>C rs1382458545 0.00001
NM_002292.4(LAMB2):c.5274C>G (p.Thr1758=) rs769621530 0.00001
NM_002292.4(LAMB2):c.690C>T (p.Asp230=) rs1387224411 0.00001
NM_002292.4(LAMB2):c.77-9T>C rs563352159 0.00001
NM_002292.4(LAMB2):c.891G>A (p.Gly297=) rs774672207 0.00001
NM_002292.4(LAMB2):c.900C>T (p.Ala300=) rs776149180 0.00001
NM_002292.4(LAMB2):c.918G>T (p.Val306=) rs775116965 0.00001
NM_002292.4(LAMB2):c.951T>A (p.Arg317=) rs755050242 0.00001
NM_002292.4(LAMB2):c.1017C>T (p.Gly339=)
NM_002292.4(LAMB2):c.1032T>C (p.Cys344=)
NM_002292.4(LAMB2):c.1036+18C>T
NM_002292.4(LAMB2):c.1037-7C>T
NM_002292.4(LAMB2):c.1083C>T (p.Ala361=)
NM_002292.4(LAMB2):c.1107G>C (p.Val369=)
NM_002292.4(LAMB2):c.114T>C (p.Asp38=) rs2107645801
NM_002292.4(LAMB2):c.1164C>G (p.Leu388=)
NM_002292.4(LAMB2):c.1201C>T (p.Leu401=)
NM_002292.4(LAMB2):c.1225+20C>T
NM_002292.4(LAMB2):c.1226-15T>A
NM_002292.4(LAMB2):c.1257C>T (p.Asp419=)
NM_002292.4(LAMB2):c.1371T>C (p.Phe457=)
NM_002292.4(LAMB2):c.1406-11C>T
NM_002292.4(LAMB2):c.1413A>G (p.Gln471=)
NM_002292.4(LAMB2):c.1446T>C (p.Thr482=) rs778631081
NM_002292.4(LAMB2):c.1455C>T (p.Asp485=)
NM_002292.4(LAMB2):c.147C>T (p.Pro49=)
NM_002292.4(LAMB2):c.1519-14C>T
NM_002292.4(LAMB2):c.1519-20C>T
NM_002292.4(LAMB2):c.1519-6G>A rs755545118
NM_002292.4(LAMB2):c.1519-7C>T
NM_002292.4(LAMB2):c.1563C>T (p.Pro521=)
NM_002292.4(LAMB2):c.1569C>T (p.Asp523=) rs1169038040
NM_002292.4(LAMB2):c.1614A>T (p.Thr538=) rs2107642728
NM_002292.4(LAMB2):c.165G>A (p.Leu55=)
NM_002292.4(LAMB2):c.1683G>T (p.Arg561=) rs760427008
NM_002292.4(LAMB2):c.1731+10C>T
NM_002292.4(LAMB2):c.1731+16C>A
NM_002292.4(LAMB2):c.1732-14G>C
NM_002292.4(LAMB2):c.1752C>G (p.Arg584=) rs2107642446
NM_002292.4(LAMB2):c.1873C>T (p.Leu625=)
NM_002292.4(LAMB2):c.1890+15T>C
NM_002292.4(LAMB2):c.1899G>A (p.Glu633=)
NM_002292.4(LAMB2):c.1969T>C (p.Leu657=)
NM_002292.4(LAMB2):c.2018+12G>C
NM_002292.4(LAMB2):c.2018+8C>A rs1553778611
NM_002292.4(LAMB2):c.2019-5C>T rs772825098
NM_002292.4(LAMB2):c.2019-9C>T
NM_002292.4(LAMB2):c.204T>C (p.Cys68=)
NM_002292.4(LAMB2):c.2070G>A (p.Lys690=)
NM_002292.4(LAMB2):c.2121C>G (p.Pro707=)
NM_002292.4(LAMB2):c.2151+16T>C
NM_002292.4(LAMB2):c.2152-10del
NM_002292.4(LAMB2):c.2152-14G>A rs921498722
NM_002292.4(LAMB2):c.2152-17C>T
NM_002292.4(LAMB2):c.2152-18C>T
NM_002292.4(LAMB2):c.2161C>T (p.Leu721=)
NM_002292.4(LAMB2):c.2163G>T (p.Leu721=)
NM_002292.4(LAMB2):c.2212C>T (p.Leu738=)
NM_002292.4(LAMB2):c.228C>T (p.Tyr76=) rs2107645646
NM_002292.4(LAMB2):c.2322C>T (p.Thr774=)
NM_002292.4(LAMB2):c.2433C>T (p.Arg811=) rs2107639949
NM_002292.4(LAMB2):c.2475C>T (p.Pro825=) rs1575533579
NM_002292.4(LAMB2):c.2489-10T>C
NM_002292.4(LAMB2):c.2489-20C>T
NM_002292.4(LAMB2):c.249+8T>A
NM_002292.4(LAMB2):c.2541T>C (p.Ser847=)
NM_002292.4(LAMB2):c.2571T>C (p.Phe857=)
NM_002292.4(LAMB2):c.2586C>T (p.Asp862=)
NM_002292.4(LAMB2):c.2640T>C (p.Asn880=)
NM_002292.4(LAMB2):c.2721-11C>T
NM_002292.4(LAMB2):c.2766C>T (p.Gly922=)
NM_002292.4(LAMB2):c.27G>A (p.Gly9=)
NM_002292.4(LAMB2):c.2877C>G (p.Gly959=)
NM_002292.4(LAMB2):c.2884+20C>T
NM_002292.4(LAMB2):c.2901T>G (p.Ala967=)
NM_002292.4(LAMB2):c.3033A>G (p.Leu1011=)
NM_002292.4(LAMB2):c.3109+15G>A
NM_002292.4(LAMB2):c.310C>T (p.His104Tyr) rs552475229
NM_002292.4(LAMB2):c.3110-17C>T
NM_002292.4(LAMB2):c.3110-20G>C rs2107638777
NM_002292.4(LAMB2):c.3177T>C (p.Asp1059=) rs2107638694
NM_002292.4(LAMB2):c.3261C>T (p.Thr1087=)
NM_002292.4(LAMB2):c.3270T>C (p.His1090=)
NM_002292.4(LAMB2):c.3327+16G>A
NM_002292.4(LAMB2):c.3328-16C>T
NM_002292.4(LAMB2):c.3424+14C>T
NM_002292.4(LAMB2):c.3424+15G>C
NM_002292.4(LAMB2):c.3425-11C>T
NM_002292.4(LAMB2):c.3425-16C>G
NM_002292.4(LAMB2):c.3642G>C (p.Arg1214=)
NM_002292.4(LAMB2):c.3654G>A (p.Leu1218=)
NM_002292.4(LAMB2):c.3666T>G (p.Gly1222=)
NM_002292.4(LAMB2):c.3690C>T (p.Ser1230=) rs2045379733
NM_002292.4(LAMB2):c.3712C>T (p.Leu1238=)
NM_002292.4(LAMB2):c.3747C>T (p.Asn1249=) rs763159475
NM_002292.4(LAMB2):c.3765T>C (p.Thr1255=)
NM_002292.4(LAMB2):c.3798-14C>G
NM_002292.4(LAMB2):c.3798-16C>A rs373780035
NM_002292.4(LAMB2):c.3798-18C>A rs377738420
NM_002292.4(LAMB2):c.3798-18C>T
NM_002292.4(LAMB2):c.3798-19C>G
NM_002292.4(LAMB2):c.3810G>A (p.Gly1270=)
NM_002292.4(LAMB2):c.3813G>A (p.Glu1271=)
NM_002292.4(LAMB2):c.386-14G>T
NM_002292.4(LAMB2):c.3927C>G (p.Leu1309=)
NM_002292.4(LAMB2):c.3930A>G (p.Thr1310=)
NM_002292.4(LAMB2):c.3982+8G>A
NM_002292.4(LAMB2):c.3983-10C>T rs2107637548
NM_002292.4(LAMB2):c.399C>T (p.Val133=)
NM_002292.4(LAMB2):c.4044T>C (p.Asn1348=)
NM_002292.4(LAMB2):c.4095G>C (p.Arg1365=)
NM_002292.4(LAMB2):c.4200G>A (p.Leu1400=)
NM_002292.4(LAMB2):c.4224+19G>C rs114913744
NM_002292.4(LAMB2):c.4225-17T>C
NM_002292.4(LAMB2):c.4225-7del rs759390686
NM_002292.4(LAMB2):c.4299G>A (p.Gly1433=) rs1165303917
NM_002292.4(LAMB2):c.4398A>G (p.Ala1466=) rs1575531010
NM_002292.4(LAMB2):c.4422C>T (p.Leu1474=)
NM_002292.4(LAMB2):c.4444C>A (p.Arg1482=)
NM_002292.4(LAMB2):c.4455C>T (p.Ser1485=)
NM_002292.4(LAMB2):c.4524C>G (p.Ala1508=)
NM_002292.4(LAMB2):c.4573+13C>T
NM_002292.4(LAMB2):c.4573+19C>T
NM_002292.4(LAMB2):c.4573+8T>C
NM_002292.4(LAMB2):c.4574-16del
NM_002292.4(LAMB2):c.4574-6C>T
NM_002292.4(LAMB2):c.460-16A>G
NM_002292.4(LAMB2):c.460-18_460-17dup
NM_002292.4(LAMB2):c.460-8C>A
NM_002292.4(LAMB2):c.460-8C>T
NM_002292.4(LAMB2):c.4671T>C (p.Gly1557=)
NM_002292.4(LAMB2):c.4683G>A (p.Glu1561=)
NM_002292.4(LAMB2):c.4707G>A (p.Val1569=) rs1575528672
NM_002292.4(LAMB2):c.4713G>A (p.Ala1571=)
NM_002292.4(LAMB2):c.471T>C (p.Pro157=) rs2107644941
NM_002292.4(LAMB2):c.4728T>C (p.Thr1576=)
NM_002292.4(LAMB2):c.4755G>A (p.Gln1585=)
NM_002292.4(LAMB2):c.4759C>T (p.Leu1587=)
NM_002292.4(LAMB2):c.4770A>G (p.Ala1590=)
NM_002292.4(LAMB2):c.4773G>A (p.Arg1591=) rs771035328
NM_002292.4(LAMB2):c.4781+15C>T
NM_002292.4(LAMB2):c.4781+16T>C
NM_002292.4(LAMB2):c.4782-12C>T
NM_002292.4(LAMB2):c.4782-13C>T
NM_002292.4(LAMB2):c.4782-15_4782-10del rs1575527834
NM_002292.4(LAMB2):c.4830A>T (p.Ala1610=)
NM_002292.4(LAMB2):c.4908G>A (p.Glu1636=)
NM_002292.4(LAMB2):c.4924-11A>G rs2107627906
NM_002292.4(LAMB2):c.4924-15G>C
NM_002292.4(LAMB2):c.4965T>G (p.Ser1655=)
NM_002292.4(LAMB2):c.5061G>C (p.Thr1687=)
NM_002292.4(LAMB2):c.5100+7T>A
NM_002292.4(LAMB2):c.5109C>A (p.Arg1703=)
NM_002292.4(LAMB2):c.5115T>C (p.Pro1705=) rs28612476
NM_002292.4(LAMB2):c.5136G>A (p.Thr1712=)
NM_002292.4(LAMB2):c.5187A>T (p.Ala1729=)
NM_002292.4(LAMB2):c.5232C>T (p.Ala1744=) rs1575524729
NM_002292.4(LAMB2):c.5244G>A (p.Lys1748=) rs2107623089
NM_002292.4(LAMB2):c.5301G>A (p.Glu1767=)
NM_002292.4(LAMB2):c.5310A>T (p.Ala1770=)
NM_002292.4(LAMB2):c.5355A>G (p.Gln1785=)
NM_002292.4(LAMB2):c.5385C>T (p.Asn1795=)
NM_002292.4(LAMB2):c.540T>C (p.Tyr180=) rs2107644885
NM_002292.4(LAMB2):c.603C>T (p.Val201=)
NM_002292.4(LAMB2):c.615C>T (p.Arg205=)
NM_002292.4(LAMB2):c.633A>G (p.Pro211=)
NM_002292.4(LAMB2):c.636C>G (p.Ser212=) rs2045481971
NM_002292.4(LAMB2):c.649-14C>A
NM_002292.4(LAMB2):c.651C>G (p.Val217=)
NM_002292.4(LAMB2):c.712+12_712+15dup
NM_002292.4(LAMB2):c.712+14C>T rs766701047
NM_002292.4(LAMB2):c.713-8C>T
NM_002292.4(LAMB2):c.713-9C>T
NM_002292.4(LAMB2):c.713-9_713-8del rs745849815
NM_002292.4(LAMB2):c.744C>T (p.Asn248=)
NM_002292.4(LAMB2):c.762G>A (p.Thr254=) rs201406827
NM_002292.4(LAMB2):c.763T>C (p.Leu255=) rs2107644353
NM_002292.4(LAMB2):c.77-4C>G
NM_002292.4(LAMB2):c.783C>T (p.Asp261=)
NM_002292.4(LAMB2):c.876T>C (p.Cys292=)
NM_002292.4(LAMB2):c.882C>G (p.Pro294=)
NM_002292.4(LAMB2):c.915+14G>C
NM_002292.4(LAMB2):c.915+8G>T
NM_002292.4(LAMB2):c.916-4A>G rs886058677
NM_002292.4(LAMB2):c.916-8CT[3]
NM_002292.4(LAMB2):c.99G>A (p.Gln33=) rs371368445

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