ClinVar Miner

List of variants reported as likely pathogenic for Seizures

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Total variants: 26
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HGVS dbSNP
46;X;t(X;3)(p11.23;q13.2)dn
NC_000023.10:g.69478269_69722349dup
NM_000391.3(TPP1):c.1015C>T (p.Arg339Trp) rs750428882
NM_001127178.3(PIGG):c.1A>G (p.Met1Val)
NM_001165963.1(SCN1A):c.719T>C (p.Leu240Pro) rs797045941
NM_001165963.2(SCN1A):c.2815C>G (p.His939Asp) rs121918736
NM_002693.2(POLG):c.2890C>T (p.Arg964Cys) rs201477273
NM_002693.2(POLG):c.3287G>A (p.Arg1096His) rs368435864
NM_004287.3(GOSR2):c.336+1G>A rs141554661
NM_006920.4(SCN1A):c.5401T>G (p.Trp1801Gly) rs121918751
NM_017882.2(CLN6):c.486+1G>A rs756522171
NM_020822.2(KCNT1):c.1429G>A (p.Ala477Thr)
NM_021007.2(SCN2A):c.2567G>A (p.Arg856Gln) rs797045942
NM_052874.4(STX1B):c.106-2A>G
NM_152778.2(MFSD8):c.1235C>T (p.Pro412Leu) rs267607235
NM_152778.2(MFSD8):c.554-2A>T
NM_152778.2(MFSD8):c.754+1G>T
NM_172107.3(KCNQ2):c.1627G>A (p.Val543Met) rs794727134
NM_172107.3(KCNQ2):c.2599_2603dup (p.Arg871Glyfs) rs1555850151
NM_172107.3(KCNQ2):c.584C>T (p.Ser195Phe)
NM_172107.3(KCNQ2):c.693G>T (p.Glu231Asp) rs797044938
NM_172107.3(KCNQ2):c.701C>T (p.Thr234Ile) rs794727741
NM_172107.3(KCNQ2):c.793G>A (p.Ala265Thr) rs794727740
NM_172107.3(KCNQ2):c.794C>T (p.Ala265Val) rs587777219
NM_172107.3(KCNQ2):c.839A>G (p.Tyr280Cys)
NM_172107.3(KCNQ2):c.994A>G (p.Arg332Gly) rs1555869758

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