ClinVar Miner

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

Included ClinVar conditions (80):
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Total variants: 51
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HGVS dbSNP
NM_020226.3(PRDM8):c.1050C>T (p.Cys350=) rs374280707
NM_020226.3(PRDM8):c.1137C>A (p.Gly379=) rs144810863
NM_020226.3(PRDM8):c.1147C>T (p.Arg383Cys)
NM_020226.3(PRDM8):c.117T>C (p.Ala39=) rs369098269
NM_020226.3(PRDM8):c.1210G>A (p.Ala404Thr)
NM_020226.3(PRDM8):c.1225G>A (p.Val409Ile) rs1483533129
NM_020226.3(PRDM8):c.1314C>T (p.Ala438=) rs188061449
NM_020226.3(PRDM8):c.1367G>A (p.Arg456Lys) rs940171879
NM_020226.3(PRDM8):c.1390C>T (p.Pro464Ser) rs201251555
NM_020226.3(PRDM8):c.1412G>A (p.Ser471Asn) rs575791037
NM_020226.3(PRDM8):c.1436G>A (p.Gly479Asp)
NM_020226.3(PRDM8):c.1447G>T (p.Ala483Ser) rs544862921
NM_020226.3(PRDM8):c.1450G>A (p.Gly484Ser)
NM_020226.3(PRDM8):c.1466G>A (p.Gly489Asp) rs1379672825
NM_020226.3(PRDM8):c.1468C>G (p.Gln490Glu)
NM_020226.3(PRDM8):c.1474G>A (p.Ala492Thr)
NM_020226.3(PRDM8):c.1530G>T (p.Gln510His) rs750341856
NM_020226.3(PRDM8):c.1573C>G (p.Pro525Ala) rs575215294
NM_020226.3(PRDM8):c.1643A>G (p.Lys548Arg)
NM_020226.3(PRDM8):c.164T>A (p.Ile55Lys)
NM_020226.3(PRDM8):c.1650G>C (p.Gln550His)
NM_020226.3(PRDM8):c.1651G>A (p.Gly551Arg)
NM_020226.3(PRDM8):c.1674T>C (p.Gly558=) rs774459714
NM_020226.3(PRDM8):c.1683C>T (p.Ser561=) rs150632206
NM_020226.3(PRDM8):c.1726C>T (p.Leu576=) rs28405693
NM_020226.3(PRDM8):c.1778_1795delCTGCGGCGGCGGCCGCGG (p.Ala593_Ala598del) rs755316101
NM_020226.3(PRDM8):c.1812G>A (p.Gln604=) rs1553906523
NM_020226.3(PRDM8):c.1838C>G (p.Pro613Arg) rs1553906552
NM_020226.3(PRDM8):c.1857G>T (p.Leu619=) rs140737026
NM_020226.3(PRDM8):c.1955A>G (p.Tyr652Cys) rs758969495
NM_020226.3(PRDM8):c.1968C>G (p.Pro656=) rs547453696
NM_020226.3(PRDM8):c.2057C>G (p.Thr686Ser)
NM_020226.3(PRDM8):c.26G>A (p.Gly9Asp) rs756625230
NM_020226.3(PRDM8):c.329G>C (p.Gly110Ala) rs200777615
NM_020226.3(PRDM8):c.412C>T (p.Leu138Phe) rs775975261
NM_020226.3(PRDM8):c.506C>T (p.Pro169Leu)
NM_020226.3(PRDM8):c.543A>T (p.Arg181Ser)
NM_020226.3(PRDM8):c.622G>A (p.Gly208Ser) rs761182081
NM_020226.3(PRDM8):c.649_651dup (p.Gln217_Glu218insGln) rs748593482
NM_020226.3(PRDM8):c.654G>A (p.Glu218=) rs1553905625
NM_020226.3(PRDM8):c.687A>C (p.Lys229Asn) rs1553905669
NM_020226.3(PRDM8):c.721C>T (p.Pro241Ser) rs201806195
NM_020226.3(PRDM8):c.722C>A (p.Pro241Gln) rs200010979
NM_020226.3(PRDM8):c.781T>C (p.Phe261Leu) rs863225286
NM_020226.3(PRDM8):c.847C>A (p.Leu283Ile) rs1211529205
NM_020226.3(PRDM8):c.850_861delAGCAGCGGTAGC (p.Ser284_Ser287del) rs1455395711
NM_020226.3(PRDM8):c.868G>A (p.Gly290Ser) rs756736858
NM_020226.3(PRDM8):c.972C>T (p.Gly324=) rs528863020
NM_020226.3(PRDM8):c.985C>T (p.Leu329=) rs560049733
NM_020226.3(PRDM8):c.987G>T (p.Leu329=) rs6831357
NM_020226.3(PRDM8):c.998G>T (p.Arg333Leu)

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