ClinVar Miner

List of variants reported as likely benign for early-onset Lafora body disease by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 173
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HGVS dbSNP gnomAD frequency
NM_001099403.2(PRDM8):c.1314C>T (p.Ala438=) rs188061449 0.01796
NM_001099403.2(PRDM8):c.1407G>A (p.Ala469=) rs559035384 0.00075
NM_001099403.2(PRDM8):c.910G>C (p.Gly304Arg) rs747934880 0.00048
NM_001099403.2(PRDM8):c.985C>T (p.Leu329=) rs560049733 0.00036
NM_001099403.2(PRDM8):c.1333C>T (p.Leu445=) rs951714195 0.00030
NM_001099403.2(PRDM8):c.276C>G (p.Val92=) rs373706543 0.00030
NM_001099403.2(PRDM8):c.459C>A (p.Ser153=) rs374385368 0.00021
NM_001099403.2(PRDM8):c.1485C>T (p.Asp495=) rs373726901 0.00013
NM_001099403.2(PRDM8):c.372G>A (p.Glu124=) rs372621624 0.00013
NM_001099403.2(PRDM8):c.555T>G (p.Ala185=) rs377684484 0.00013
NM_001099403.2(PRDM8):c.219+17G>A rs374010085 0.00012
NM_001099403.2(PRDM8):c.1779_1796del (p.Ala594_Gly599del) rs574748973 0.00009
NM_001099403.2(PRDM8):c.90C>T (p.Tyr30=) rs767896746 0.00009
NM_001099403.2(PRDM8):c.1647C>T (p.Leu549=) rs770130991 0.00007
NM_001099403.2(PRDM8):c.452-15T>C rs751186666 0.00007
NM_001099403.2(PRDM8):c.1494A>G (p.Lys498=) rs1738660549 0.00006
NM_001099403.2(PRDM8):c.858T>C (p.Gly286=) rs920460933 0.00006
NM_001099403.2(PRDM8):c.1464G>A (p.Gly488=) rs951686621 0.00005
NM_001099403.2(PRDM8):c.2040C>T (p.His680=) rs376730468 0.00005
NM_001099403.2(PRDM8):c.1236G>A (p.Glu412=) rs1296620793 0.00004
NM_001099403.2(PRDM8):c.1239C>T (p.Asp413=) rs955890394 0.00004
NM_001099403.2(PRDM8):c.1503C>T (p.Phe501=) rs966208524 0.00004
NM_001099403.2(PRDM8):c.1569C>G (p.Leu523=) rs771399439 0.00004
NM_001099403.2(PRDM8):c.220-17T>A rs371051740 0.00004
NM_001099403.2(PRDM8):c.271T>C (p.Leu91=) rs370312299 0.00004
NM_001099403.2(PRDM8):c.409T>C (p.Leu137=) rs376010390 0.00004
NM_001099403.2(PRDM8):c.750C>G (p.Ala250=) rs1458732519 0.00004
NM_001099403.2(PRDM8):c.774C>T (p.Ser258=) rs1477843578 0.00004
NM_001099403.2(PRDM8):c.885C>T (p.His295=) rs1031517706 0.00004
NM_001099403.2(PRDM8):c.1038G>A (p.Glu346=) rs752840771 0.00003
NM_001099403.2(PRDM8):c.1461C>G (p.Gly487=) rs766926830 0.00003
NM_001099403.2(PRDM8):c.282G>A (p.Ser94=) rs777124231 0.00003
NM_001099403.2(PRDM8):c.663A>G (p.Leu221=) rs757742321 0.00003
NM_001099403.2(PRDM8):c.918C>T (p.Ala306=) rs777671444 0.00003
NM_001099403.2(PRDM8):c.1134G>A (p.Thr378=) rs944679589 0.00002
NM_001099403.2(PRDM8):c.1197G>A (p.Gln399=) rs1474812924 0.00002
NM_001099403.2(PRDM8):c.1035G>A (p.Lys345=) rs1192208565 0.00001
NM_001099403.2(PRDM8):c.1077C>T (p.Gly359=) rs746862284 0.00001
NM_001099403.2(PRDM8):c.1098G>A (p.Glu366=) rs1222924303 0.00001
NM_001099403.2(PRDM8):c.1215C>T (p.Asp405=) rs1560478454 0.00001
NM_001099403.2(PRDM8):c.1275C>T (p.Pro425=) rs1738619872 0.00001
NM_001099403.2(PRDM8):c.1306C>T (p.Leu436=) rs1321681007 0.00001
NM_001099403.2(PRDM8):c.1350G>A (p.Glu450=) rs1578265647 0.00001
NM_001099403.2(PRDM8):c.1396C>T (p.Leu466=) rs1738640851 0.00001
NM_001099403.2(PRDM8):c.1434G>C (p.Thr478=) rs1199927860 0.00001
NM_001099403.2(PRDM8):c.1476C>T (p.Ala492=) rs1279321008 0.00001
NM_001099403.2(PRDM8):c.1521T>C (p.Ser507=) rs757071182 0.00001
NM_001099403.2(PRDM8):c.159C>T (p.Asp53=) rs1262983903 0.00001
NM_001099403.2(PRDM8):c.1674T>C (p.Gly558=) rs774459714 0.00001
NM_001099403.2(PRDM8):c.1764C>G (p.Ala588=) rs748241828 0.00001
NM_001099403.2(PRDM8):c.1767T>A (p.Ala589=) rs773515375 0.00001
NM_001099403.2(PRDM8):c.1809G>A (p.Leu603=) rs780466301 0.00001
NM_001099403.2(PRDM8):c.1821G>A (p.Ser607=) rs1361333573 0.00001
NM_001099403.2(PRDM8):c.1929T>C (p.His643=) rs761518640 0.00001
NM_001099403.2(PRDM8):c.1956T>C (p.Tyr652=) rs374015672 0.00001
NM_001099403.2(PRDM8):c.2043C>T (p.Leu681=) rs758880510 0.00001
NM_001099403.2(PRDM8):c.222A>G (p.Val74=) rs375203530 0.00001
NM_001099403.2(PRDM8):c.231A>G (p.Ser77=) rs1045192626 0.00001
NM_001099403.2(PRDM8):c.369C>T (p.Asp123=) rs754992126 0.00001
NM_001099403.2(PRDM8):c.618C>G (p.Gly206=) rs370541374 0.00001
NM_001099403.2(PRDM8):c.660T>C (p.Pro220=) rs747489896 0.00001
NM_001099403.2(PRDM8):c.675C>G (p.Pro225=) rs749054601 0.00001
NM_001099403.2(PRDM8):c.951G>C (p.Pro317=) rs1326656501 0.00001
NM_001099403.2(PRDM8):c.978C>A (p.Gly326=) rs1484326591 0.00001
NM_001099403.2(PRDM8):c.1002C>G (p.Gly334=)
NM_001099403.2(PRDM8):c.1017G>T (p.Arg339=)
NM_001099403.2(PRDM8):c.1089C>T (p.Gly363=)
NM_001099403.2(PRDM8):c.1092G>C (p.Leu364=)
NM_001099403.2(PRDM8):c.1104C>T (p.Gly368=) rs1738591619
NM_001099403.2(PRDM8):c.1146G>A (p.Lys382=) rs2109879211
NM_001099403.2(PRDM8):c.1155C>T (p.Ala385=) rs2109879231
NM_001099403.2(PRDM8):c.1158C>T (p.Phe386=)
NM_001099403.2(PRDM8):c.1167G>C (p.Val389=) rs1276443060
NM_001099403.2(PRDM8):c.1167G>T (p.Val389=)
NM_001099403.2(PRDM8):c.1192C>T (p.Leu398=)
NM_001099403.2(PRDM8):c.1200G>A (p.Glu400=) rs2109879321
NM_001099403.2(PRDM8):c.1218C>G (p.Gly406=) rs2109879340
NM_001099403.2(PRDM8):c.1224A>G (p.Gly408=)
NM_001099403.2(PRDM8):c.1233C>G (p.Ser411=) rs2109879360
NM_001099403.2(PRDM8):c.1245C>T (p.Asp415=)
NM_001099403.2(PRDM8):c.1251C>A (p.Gly417=) rs1377717218
NM_001099403.2(PRDM8):c.1260C>G (p.Gly420=)
NM_001099403.2(PRDM8):c.1260C>T (p.Gly420=) rs1738615886
NM_001099403.2(PRDM8):c.1272G>A (p.Thr424=) rs1167938560
NM_001099403.2(PRDM8):c.1284G>A (p.Ala428=)
NM_001099403.2(PRDM8):c.1290G>A (p.Pro430=)
NM_001099403.2(PRDM8):c.1326G>A (p.Gly442=)
NM_001099403.2(PRDM8):c.1335G>C (p.Leu445=)
NM_001099403.2(PRDM8):c.1338C>T (p.Pro446=)
NM_001099403.2(PRDM8):c.1362T>G (p.Pro454=)
NM_001099403.2(PRDM8):c.1380C>T (p.Phe460=) rs2109879578
NM_001099403.2(PRDM8):c.1392G>T (p.Pro464=)
NM_001099403.2(PRDM8):c.1416C>T (p.Thr472=)
NM_001099403.2(PRDM8):c.1419C>T (p.Ser473=) rs1738644660
NM_001099403.2(PRDM8):c.1422T>A (p.Gly474=)
NM_001099403.2(PRDM8):c.1422T>G (p.Gly474=) rs1400958109
NM_001099403.2(PRDM8):c.1425G>A (p.Gly475=)
NM_001099403.2(PRDM8):c.1428C>A (p.Gly476=)
NM_001099403.2(PRDM8):c.1434G>A (p.Thr478=)
NM_001099403.2(PRDM8):c.1437C>A (p.Gly479=) rs904515362
NM_001099403.2(PRDM8):c.1446C>G (p.Ala482=) rs1578265921
NM_001099403.2(PRDM8):c.1446C>T (p.Ala482=) rs1578265921
NM_001099403.2(PRDM8):c.1461C>T (p.Gly487=)
NM_001099403.2(PRDM8):c.1476C>G (p.Ala492=) rs1279321008
NM_001099403.2(PRDM8):c.1497C>T (p.Ser499=)
NM_001099403.2(PRDM8):c.1546C>T (p.Leu516=)
NM_001099403.2(PRDM8):c.1566G>A (p.Ala522=)
NM_001099403.2(PRDM8):c.1611C>G (p.Leu537=)
NM_001099403.2(PRDM8):c.1638G>T (p.Ala546=)
NM_001099403.2(PRDM8):c.1659G>A (p.Ala553=) rs961379038
NM_001099403.2(PRDM8):c.1659G>C (p.Ala553=) rs961379038
NM_001099403.2(PRDM8):c.1665G>A (p.Leu555=)
NM_001099403.2(PRDM8):c.1668C>T (p.Asn556=) rs2109880238
NM_001099403.2(PRDM8):c.1671A>G (p.Gly557=) rs1287823085
NM_001099403.2(PRDM8):c.1677C>T (p.Cys559=) rs762021094
NM_001099403.2(PRDM8):c.1680G>A (p.Gly560=)
NM_001099403.2(PRDM8):c.1692C>T (p.Ser564=)
NM_001099403.2(PRDM8):c.1698C>G (p.Gly566=) rs1738695026
NM_001099403.2(PRDM8):c.1705C>T (p.Leu569=)
NM_001099403.2(PRDM8):c.1716G>A (p.Gln572=)
NM_001099403.2(PRDM8):c.1725C>T (p.Phe575=)
NM_001099403.2(PRDM8):c.1743C>T (p.Phe581=)
NM_001099403.2(PRDM8):c.1764C>T (p.Ala588=)
NM_001099403.2(PRDM8):c.1767T>C (p.Ala589=) rs773515375
NM_001099403.2(PRDM8):c.1782G>A (p.Ala594=) rs924936492
NM_001099403.2(PRDM8):c.1788G>C (p.Ala596=) rs752184496
NM_001099403.2(PRDM8):c.1812G>A (p.Gln604=) rs1553906523
NM_001099403.2(PRDM8):c.1827C>T (p.Leu609=)
NM_001099403.2(PRDM8):c.1833G>C (p.Leu611=)
NM_001099403.2(PRDM8):c.1839G>T (p.Pro613=)
NM_001099403.2(PRDM8):c.1845C>T (p.Ser615=)
NM_001099403.2(PRDM8):c.1875C>T (p.Asn625=)
NM_001099403.2(PRDM8):c.1881C>T (p.Cys627=)
NM_001099403.2(PRDM8):c.1884C>G (p.Ala628=) rs1738733654
NM_001099403.2(PRDM8):c.1950G>A (p.Lys650=)
NM_001099403.2(PRDM8):c.1959G>T (p.Ala653=)
NM_001099403.2(PRDM8):c.1968C>G (p.Pro656=) rs547453696
NM_001099403.2(PRDM8):c.1986A>G (p.Arg662=)
NM_001099403.2(PRDM8):c.2007C>T (p.Pro669=)
NM_001099403.2(PRDM8):c.2022C>T (p.Ser674=) rs765557090
NM_001099403.2(PRDM8):c.207G>A (p.Pro69=)
NM_001099403.2(PRDM8):c.219+13T>C
NM_001099403.2(PRDM8):c.219+17G>T
NM_001099403.2(PRDM8):c.220-20T>C rs765904617
NM_001099403.2(PRDM8):c.363C>G (p.Ala121=) rs1263648679
NM_001099403.2(PRDM8):c.415T>C (p.Leu139=) rs1738440035
NM_001099403.2(PRDM8):c.451+13G>A
NM_001099403.2(PRDM8):c.451+20G>A rs2109877266
NM_001099403.2(PRDM8):c.452-19G>C
NM_001099403.2(PRDM8):c.452-19G>T rs777390514
NM_001099403.2(PRDM8):c.504C>T (p.Phe168=)
NM_001099403.2(PRDM8):c.564T>C (p.Ser188=)
NM_001099403.2(PRDM8):c.573C>T (p.Asp191=)
NM_001099403.2(PRDM8):c.57A>G (p.Gln19=) rs2109875602
NM_001099403.2(PRDM8):c.591G>T (p.Val197=)
NM_001099403.2(PRDM8):c.627C>T (p.Gly209=)
NM_001099403.2(PRDM8):c.630A>G (p.Lys210=) rs1738515726
NM_001099403.2(PRDM8):c.633C>T (p.Asp211=)
NM_001099403.2(PRDM8):c.639G>A (p.Gln213=) rs749943042
NM_001099403.2(PRDM8):c.654G>A (p.Glu218=) rs1553905625
NM_001099403.2(PRDM8):c.666C>T (p.Gly222=)
NM_001099403.2(PRDM8):c.687A>G (p.Lys229=)
NM_001099403.2(PRDM8):c.747C>G (p.Ala249=) rs1578263531
NM_001099403.2(PRDM8):c.750C>T (p.Ala250=) rs1458732519
NM_001099403.2(PRDM8):c.798G>A (p.Arg266=) rs2109878495
NM_001099403.2(PRDM8):c.804G>A (p.Leu268=) rs1279908364
NM_001099403.2(PRDM8):c.81C>T (p.Thr27=)
NM_001099403.2(PRDM8):c.867C>T (p.Ser289=) rs750918327
NM_001099403.2(PRDM8):c.921G>A (p.Thr307=)
NM_001099403.2(PRDM8):c.921G>C (p.Thr307=) rs770919711
NM_001099403.2(PRDM8):c.945A>G (p.Lys315=)
NM_001099403.2(PRDM8):c.951G>A (p.Pro317=)
NM_001099403.2(PRDM8):c.996C>G (p.Gly332=)

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