ClinVar Miner

List of variants reported as uncertain significance for epilepsy by Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology

Included ClinVar conditions (438):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001365999.1(SZT2):c.9629G>A (p.Arg3210His) rs371193436 0.00004
NM_001367561.1(DOCK7):c.3541C>T (p.Arg1181Cys) rs202054691 0.00001
NM_172107.4(KCNQ2):c.1291G>A (p.Gly431Arg) rs746853951 0.00001
NM_001099922.3(ALG13):c.314T>C (p.Met105Thr)
NM_001127222.2(CACNA1A):c.1924G>A (p.Asp642Asn) rs2057938033
NM_001127644.2(GABRA1):c.1350A>T (p.Lys450Asn) rs142385746
NM_001165963.4(SCN1A):c.242A>G (p.Asp81Gly) rs1684663181
NM_001242896.3(DEPDC5):c.2518C>T (p.Leu840Phe)
NM_001326342.2(CELF2):c.746G>T (p.Gly249Val)
NM_001365999.1(SZT2):c.5797C>T (p.His1933Tyr) rs2153934308
NM_001367561.1(DOCK7):c.5425C>T (p.Arg1809Trp) rs1646379326
NM_001371727.1(GABRB2):c.173C>T (p.Pro58Leu)
NM_001690.4(ATP6V1A):c.31G>T (p.Asp11Tyr)
NM_004114.5(FGF13):c.482G>A (p.Arg161His)
NM_004341.5(CAD):c.6020T>C (p.Leu2007Pro) rs1676344855
NM_004519.4(KCNQ3):c.1415T>A (p.Phe472Tyr)
NM_005458.8(GABBR2):c.2737A>G (p.Ser913Gly) rs1830289381
NM_139058.3(ARX):c.433G>T (p.Ala145Ser) rs1438576250

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