ClinVar Miner

List of variants studied for epilepsy by Clinical Genetics Laboratory, University Hospital Schleswig-Holstein

Included ClinVar conditions (435):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_004366.6(CLCN2):c.719T>C (p.Leu240Pro) rs143751880 0.00013
NM_001242896.3(DEPDC5):c.2066A>C (p.Glu689Ala) rs370940232 0.00011
NM_001127222.2(CACNA1A):c.3784G>A (p.Ala1262Thr) rs776503550 0.00003
NM_172107.4(KCNQ2):c.1811G>A (p.Arg604His) rs1203495492 0.00002
NM_000810.4(GABRA5):c.713G>A (p.Ser238Asn) rs762861847 0.00001
NM_006922.4(SCN3A):c.1670A>T (p.Gln557Leu) rs1049507805 0.00001
NC_000016.10:g.30996672_31010406del
NM_001040142.2(SCN2A):c.304C>T (p.Arg102Ter) rs387906683
NM_001040142.2(SCN2A):c.526G>C (p.Ala176Pro)
NM_001040142.2(SCN2A):c.781G>A (p.Val261Met) rs1057520413
NM_001127222.2(CACNA1A):c.3091_3094del
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln) rs1057520918
NM_001127222.2(CACNA1A):c.5250-2A>G
NM_001134407.3(GRIN2A):c.1492G>A (p.Gly498Ser) rs757713617
NM_001134407.3(GRIN2A):c.1849G>A (p.Val617Met)
NM_001165963.4(SCN1A):c.2855G>T (p.Trp952Leu)
NM_001165963.4(SCN1A):c.3281A>T (p.Lys1094Ile) rs2105794473
NM_001330260.2(SCN8A):c.970T>A (p.Cys324Ser)
NM_003042.4(SLC6A1):c.1435C>T (p.Arg479Ter) rs745529755
NM_004519.4(KCNQ3):c.1066G>A (p.Ala356Thr) rs2130121430
NM_004975.4(KCNB1):c.1297C>T (p.Arg433Ter) rs1064794764
NM_004975.4(KCNB1):c.242A>T (p.Asn81Ile) rs2122803550
NM_006772.3(SYNGAP1):c.2764C>T (p.Arg922Ter) rs1554122244
NM_006922.4(SCN3A):c.1298C>T (p.Ala433Val)
NM_014467.3(SRPX2):c.659G>C (p.Arg220Thr)
NM_014795.4(ZEB2):c.332-3C>G
NM_021072.4(HCN1):c.1429G>A (p.Ala477Thr) rs1353247808
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_172107.4(KCNQ2):c.514G>A (p.Asp172Asn)
NM_172107.4(KCNQ2):c.593G>A (p.Arg198Gln) rs796052621
NM_198503.5(KCNT2):c.1621C>T (p.Arg541Ter)

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