ClinVar Miner

List of variants studied for epilepsy by SIB Swiss Institute of Bioinformatics

Included ClinVar conditions (438):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_006772.3(SYNGAP1):c.3344T>C (p.Ile1115Thr) rs191549504 0.00927
NM_152268.4(PARS2):c.1091C>G (p.Pro364Arg) rs35201073 0.00128
NM_001165963.4(SCN1A):c.1811G>A (p.Arg604His) rs121918769 0.00087
NM_014467.3(SRPX2):c.980A>G (p.Asn327Ser) rs121918363 0.00041
NM_006651.4(CPLX1):c.382C>A (p.Leu128Met) rs371709824 0.00009
NM_152268.4(PARS2):c.283G>A (p.Val95Ile) rs147227819 0.00005
NM_001042646.3(TRAK1):c.986T>C (p.Leu329Pro) rs770281448 0.00001
NM_016188.5(ACTL6B):c.1275C>A (p.Cys425Ter) rs1584466132 0.00001
NM_016188.5(ACTL6B):c.389G>A (p.Arg130Gln) rs757603505 0.00001
NM_016188.5(ACTL6B):c.740G>A (p.Trp247Ter) rs1562848556 0.00001
NM_152268.4(PARS2):c.836C>T (p.Ser279Leu) rs730882153 0.00001
NM_001020658.2(PUM1):c.3439C>T (p.Arg1147Trp) rs1557539450
NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys) rs1131692231
NM_001037333.3(CYFIP2):c.260G>C (p.Arg87Pro) rs1554108163
NM_001037333.3(CYFIP2):c.260G>T (p.Arg87Leu) rs1554108163
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
NM_004171.4(SLC1A2):c.866C>G (p.Pro289Arg) rs781379291
NM_006651.4(CPLX1):c.315C>A (p.Cys105Ter) rs1553851860
NM_006651.4(CPLX1):c.322G>T (p.Glu108Ter) rs1060499735
NM_012479.4(YWHAG):c.148A>C (p.Lys50Gln) rs1554616652
NM_012479.4(YWHAG):c.387C>G (p.Asp129Glu) rs1554616630
NM_012479.4(YWHAG):c.394C>T (p.Arg132Cys) rs1554616628
NM_012479.4(YWHAG):c.398A>C (p.Tyr133Ser) rs1554616627
NM_012479.4(YWHAG):c.44A>C (p.Glu15Ala) rs1554618767
NM_015178.3(RHOBTB2):c.1355C>G (p.Ala452Gly) rs1554504656
NM_015178.3(RHOBTB2):c.1382G>A (p.Arg461His) rs1554504663
NM_015178.3(RHOBTB2):c.1453C>T (p.Arg485Cys) rs1563292586
NM_015178.3(RHOBTB2):c.1462A>G (p.Asn488Asp) rs1554504678
NM_015178.3(RHOBTB2):c.1465C>T (p.Arg489Trp) rs1554504681
NM_015178.3(RHOBTB2):c.1466G>A (p.Arg489Gln) rs1554504684
NM_015213.4(DENND5A):c.1622A>G (p.Asp541Gly) rs1057519309
NM_015267.4(CUX2):c.1768G>A (p.Glu590Lys)
NM_016188.5(ACTL6B):c.1045G>A (p.Gly349Ser) rs955171017
NM_016188.5(ACTL6B):c.289C>T (p.Arg97Ter) rs929755522
NM_016188.5(ACTL6B):c.435CTT[2] (p.Phe147del) rs772520618
NM_016188.5(ACTL6B):c.556C>T (p.Gln186Ter) rs1584468891
NM_016188.5(ACTL6B):c.617T>C (p.Leu206Pro) rs1562848909
NM_016188.5(ACTL6B):c.724C>T (p.Gln242Ter) rs1562848568
NM_016188.5(ACTL6B):c.820C>T (p.Gln274Ter) rs1562848425
NM_016188.5(ACTL6B):c.852C>G (p.Tyr284Ter) rs141640000
NM_152268.4(PARS2):c.239T>C (p.Ile80Thr) rs1246773873
NM_152268.4(PARS2):c.604C>G (p.Arg202Gly) rs141760650
NM_152268.4(PARS2):c.607G>A (p.Glu203Lys) rs1557762729
NM_172107.4(KCNQ2):c.601C>T (p.Arg201Cys) rs796052623

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