ClinVar Miner

List of variants in gene PRDM8 studied for adolescent-onset epilepsy syndrome

Included ClinVar conditions (88):
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Gene type:
ClinVar version:
Total variants: 130
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HGVS dbSNP
NM_001099403.2(PRDM8):c.1011A>C (p.Val337=) rs755114294
NM_001099403.2(PRDM8):c.1025C>T (p.Pro342Leu)
NM_001099403.2(PRDM8):c.1035G>A (p.Lys345=)
NM_001099403.2(PRDM8):c.1050C>T (p.Cys350=) rs374280707
NM_001099403.2(PRDM8):c.1075G>A (p.Gly359Ser) rs1369436425
NM_001099403.2(PRDM8):c.1087G>C (p.Gly363Arg)
NM_001099403.2(PRDM8):c.10A>G (p.Thr4Ala)
NM_001099403.2(PRDM8):c.1114G>A (p.Ala372Thr)
NM_001099403.2(PRDM8):c.1137C>A (p.Gly379=) rs144810863
NM_001099403.2(PRDM8):c.1147C>T (p.Arg383Cys) rs775117967
NM_001099403.2(PRDM8):c.1166T>C (p.Val389Ala)
NM_001099403.2(PRDM8):c.1173G>T (p.Lys391Asn)
NM_001099403.2(PRDM8):c.117T>C (p.Ala39=) rs369098269
NM_001099403.2(PRDM8):c.1210G>A (p.Ala404Thr) rs1422650743
NM_001099403.2(PRDM8):c.1225G>A (p.Val409Ile) rs1483533129
NM_001099403.2(PRDM8):c.1236G>A (p.Glu412=)
NM_001099403.2(PRDM8):c.1239C>T (p.Asp413=) rs955890394
NM_001099403.2(PRDM8):c.1246G>A (p.Ala416Thr)
NM_001099403.2(PRDM8):c.1279_1284del (p.Ala427_Ala428del)
NM_001099403.2(PRDM8):c.1288C>T (p.Pro430Ser)
NM_001099403.2(PRDM8):c.1314C>T (p.Ala438=) rs188061449
NM_001099403.2(PRDM8):c.1333C>T (p.Leu445=) rs951714195
NM_001099403.2(PRDM8):c.1336C>T (p.Pro446Ser)
NM_001099403.2(PRDM8):c.1343G>A (p.Arg448Gln)
NM_001099403.2(PRDM8):c.1350G>A (p.Glu450=) rs1578265647
NM_001099403.2(PRDM8):c.1357A>G (p.Ser453Gly)
NM_001099403.2(PRDM8):c.1367G>A (p.Arg456Lys) rs940171879
NM_001099403.2(PRDM8):c.1390C>T (p.Pro464Ser) rs201251555
NM_001099403.2(PRDM8):c.1405G>A (p.Ala469Thr)
NM_001099403.2(PRDM8):c.1412G>A (p.Ser471Asn) rs575791037
NM_001099403.2(PRDM8):c.1426G>A (p.Gly476Ser) rs1157815573
NM_001099403.2(PRDM8):c.1436G>A (p.Gly479Asp) rs1560479017
NM_001099403.2(PRDM8):c.1447G>T (p.Ala483Ser) rs544862921
NM_001099403.2(PRDM8):c.1450G>A (p.Gly484Ser) rs1014065137
NM_001099403.2(PRDM8):c.1465G>A (p.Gly489Ser)
NM_001099403.2(PRDM8):c.1466G>A (p.Gly489Asp) rs1379672825
NM_001099403.2(PRDM8):c.1468C>G (p.Gln490Glu) rs1560479209
NM_001099403.2(PRDM8):c.146C>A (p.Thr49Asn)
NM_001099403.2(PRDM8):c.1474G>A (p.Ala492Thr) rs1560479219
NM_001099403.2(PRDM8):c.14G>A (p.Gly5Asp)
NM_001099403.2(PRDM8):c.1506G>A (p.Ser502=) rs764387669
NM_001099403.2(PRDM8):c.1530G>T (p.Gln510His) rs750341856
NM_001099403.2(PRDM8):c.1552C>T (p.Gln518Ter)
NM_001099403.2(PRDM8):c.1553A>G (p.Gln518Arg)
NM_001099403.2(PRDM8):c.1562G>A (p.Gly521Asp)
NM_001099403.2(PRDM8):c.1573C>G (p.Pro525Ala) rs575215294
NM_001099403.2(PRDM8):c.1585G>T (p.Ala529Ser)
NM_001099403.2(PRDM8):c.1586C>T (p.Ala529Val)
NM_001099403.2(PRDM8):c.1621G>T (p.Ala541Ser)
NM_001099403.2(PRDM8):c.1624G>T (p.Ala542Ser)
NM_001099403.2(PRDM8):c.1643A>G (p.Lys548Arg) rs1320311514
NM_001099403.2(PRDM8):c.1647C>T (p.Leu549=) rs770130991
NM_001099403.2(PRDM8):c.164T>A (p.Ile55Lys) rs762557383
NM_001099403.2(PRDM8):c.1650G>C (p.Gln550His) rs776091682
NM_001099403.2(PRDM8):c.1651G>A (p.Gly551Arg) rs762888947
NM_001099403.2(PRDM8):c.1659G>C (p.Ala553=) rs961379038
NM_001099403.2(PRDM8):c.1674T>C (p.Gly558=) rs774459714
NM_001099403.2(PRDM8):c.1683C>T (p.Ser561=) rs150632206
NM_001099403.2(PRDM8):c.1691G>C (p.Ser564Thr)
NM_001099403.2(PRDM8):c.1693G>A (p.Gly565Ser)
NM_001099403.2(PRDM8):c.1693GGC[5] (p.Gly568dup)
NM_001099403.2(PRDM8):c.1721C>G (p.Pro574Arg) rs746174564
NM_001099403.2(PRDM8):c.1726C>T (p.Leu576=) rs28405693
NM_001099403.2(PRDM8):c.1727T>A (p.Leu576Gln)
NM_001099403.2(PRDM8):c.1744T>C (p.Trp582Arg)
NM_001099403.2(PRDM8):c.1767_1775dup (p.Ala596_Ala598dup) rs1480528424
NM_001099403.2(PRDM8):c.1767_1787del (p.Ala592_Ala598del)
NM_001099403.2(PRDM8):c.1778_1795del (p.Ala593_Ala598del) rs755316101
NM_001099403.2(PRDM8):c.1779_1784dup (p.Ala597_Ala598dup)
NM_001099403.2(PRDM8):c.1779_1796del (p.Ala594_Gly599del) rs574748973
NM_001099403.2(PRDM8):c.17T>A (p.Ile6Asn)
NM_001099403.2(PRDM8):c.1805_1810AGCTGC[1] (p.602_603QL[1]) rs777876948
NM_001099403.2(PRDM8):c.1812G>A (p.Gln604=) rs1553906523
NM_001099403.2(PRDM8):c.1813C>G (p.Leu605Val) rs749676209
NM_001099403.2(PRDM8):c.1838C>G (p.Pro613Arg) rs1553906552
NM_001099403.2(PRDM8):c.1857G>T (p.Leu619=) rs140737026
NM_001099403.2(PRDM8):c.1874A>G (p.Asn625Ser)
NM_001099403.2(PRDM8):c.1951_1952delinsAT (p.Glu651Met) rs1578268165
NM_001099403.2(PRDM8):c.1955A>G (p.Tyr652Cys) rs758969495
NM_001099403.2(PRDM8):c.1956T>C (p.Tyr652=) rs374015672
NM_001099403.2(PRDM8):c.1966C>T (p.Pro656Ser) rs200471159
NM_001099403.2(PRDM8):c.1968C>G (p.Pro656=) rs547453696
NM_001099403.2(PRDM8):c.2020T>C (p.Ser674Pro)
NM_001099403.2(PRDM8):c.202G>A (p.Val68Ile)
NM_001099403.2(PRDM8):c.2057C>G (p.Thr686Ser) rs1560481395
NM_001099403.2(PRDM8):c.209A>G (p.Tyr70Cys)
NM_001099403.2(PRDM8):c.26G>A (p.Gly9Asp) rs756625230
NM_001099403.2(PRDM8):c.276C>G (p.Val92=) rs373706543
NM_001099403.2(PRDM8):c.282G>A (p.Ser94=)
NM_001099403.2(PRDM8):c.329G>C (p.Gly110Ala) rs200777615
NM_001099403.2(PRDM8):c.373G>A (p.Glu125Lys)
NM_001099403.2(PRDM8):c.378A>T (p.Leu126Phe)
NM_001099403.2(PRDM8):c.404C>T (p.Thr135Ile)
NM_001099403.2(PRDM8):c.40G>A (p.Asp14Asn)
NM_001099403.2(PRDM8):c.412C>T (p.Leu138Phe) rs775975261
NM_001099403.2(PRDM8):c.459C>A (p.Ser153=) rs374385368
NM_001099403.2(PRDM8):c.506C>T (p.Pro169Leu) rs775462847
NM_001099403.2(PRDM8):c.543A>T (p.Arg181Ser) rs377755509
NM_001099403.2(PRDM8):c.589G>T (p.Val197Leu) rs1578262845
NM_001099403.2(PRDM8):c.622G>A (p.Gly208Ser) rs761182081
NM_001099403.2(PRDM8):c.634_636CAG[7] (p.Gln217dup) rs748593482
NM_001099403.2(PRDM8):c.647A>T (p.Gln216Leu) rs766078819
NM_001099403.2(PRDM8):c.654G>A (p.Glu218=) rs1553905625
NM_001099403.2(PRDM8):c.679T>A (p.Phe227Ile)
NM_001099403.2(PRDM8):c.687A>C (p.Lys229Asn) rs1553905669
NM_001099403.2(PRDM8):c.689C>G (p.Ala230Gly)
NM_001099403.2(PRDM8):c.68C>A (p.Thr23Lys)
NM_001099403.2(PRDM8):c.710C>T (p.Pro237Leu)
NM_001099403.2(PRDM8):c.721C>T (p.Pro241Ser) rs201806195
NM_001099403.2(PRDM8):c.722C>A (p.Pro241Gln) rs200010979
NM_001099403.2(PRDM8):c.728G>T (p.Ser243Ile)
NM_001099403.2(PRDM8):c.740C>G (p.Ser247Cys)
NM_001099403.2(PRDM8):c.757A>G (p.Ser253Gly)
NM_001099403.2(PRDM8):c.781T>C (p.Phe261Leu) rs863225286
NM_001099403.2(PRDM8):c.845G>C (p.Ser282Thr)
NM_001099403.2(PRDM8):c.847C>A (p.Leu283Ile) rs1211529205
NM_001099403.2(PRDM8):c.850_861del (p.Ser284_Ser287del) rs1455395711
NM_001099403.2(PRDM8):c.858T>C (p.Gly286=) rs920460933
NM_001099403.2(PRDM8):c.865A>G (p.Ser289Gly) rs1443007613
NM_001099403.2(PRDM8):c.868G>A (p.Gly290Ser) rs756736858
NM_001099403.2(PRDM8):c.868_870GGC[2] (p.Gly292_Gly294del)
NM_001099403.2(PRDM8):c.868_870GGC[7] (p.Gly293_Gly294dup)
NM_001099403.2(PRDM8):c.868_870GGC[8] (p.Gly292_Gly294dup)
NM_001099403.2(PRDM8):c.877G>A (p.Gly293Ser)
NM_001099403.2(PRDM8):c.884A>C (p.His295Pro) rs767560709
NM_001099403.2(PRDM8):c.940A>T (p.Arg314Trp)
NM_001099403.2(PRDM8):c.972C>T (p.Gly324=) rs528863020
NM_001099403.2(PRDM8):c.985C>T (p.Leu329=) rs560049733
NM_001099403.2(PRDM8):c.987G>T (p.Leu329=) rs6831357
NM_001099403.2(PRDM8):c.998G>T (p.Arg333Leu) rs1323000516

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