ClinVar Miner

List of variants reported as benign for Epilepsy

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.*721A>G rs4667859 0.99675
NM_001165963.4(SCN1A):c.2292T>C (p.Val764=) rs6432860 0.73885
NM_001165963.4(SCN1A):c.3199G>A (p.Ala1067Thr) rs2298771 0.73872
NM_001165963.4(SCN1A):c.*1739C>T rs1813502 0.70050
NM_001165963.4(SCN1A):c.1212A>G (p.Val404=) rs7580482 0.66162
NM_004204.5(PIGQ):c.639C>T (p.Cys213=) rs4984669 0.45828
NM_004204.5(PIGQ):c.40A>G (p.Thr14Ala) rs2071979 0.45338
NM_004204.5(PIGQ):c.1532-15T>C rs62030874 0.44935
NM_004204.5(PIGQ):c.1532-17del rs67976359 0.44933
NM_004204.5(PIGQ):c.1567G>A (p.Gly523Ser) rs7187227 0.16607
NM_001353921.2(ARHGEF9):c.1322-49T>G rs56401522 0.03802
NM_004204.5(PIGQ):c.915G>C (p.Leu305=) rs75952679 0.03672
NM_004204.5(PIGQ):c.27G>A (p.Thr9=) rs61753370 0.02006
NM_004204.5(PIGQ):c.1336-11C>G rs57125048 0.00683
NM_004204.5(PIGQ):c.1531+11C>T rs143549408 0.00683
NM_004204.5(PIGQ):c.75G>A (p.Pro25=) rs56293456 0.00656
NM_004204.5(PIGQ):c.1617C>T (p.Arg539=) rs141040910 0.00442
NM_004204.5(PIGQ):c.810C>T (p.Ala270=) rs35227916 0.00364
NM_004204.5(PIGQ):c.34G>A (p.Val12Ile) rs11864607 0.00271
NM_004204.5(PIGQ):c.1568G>A (p.Gly523Asp) rs117537178 0.00249
NM_004204.5(PIGQ):c.620G>A (p.Arg207Gln) rs200353362 0.00043
NM_004204.5(PIGQ):c.322G>A (p.Glu108Lys) rs200388707 0.00031
NM_004204.5(PIGQ):c.849G>T (p.Leu283=) rs373615860 0.00010
NM_001165963.4(SCN1A):c.2177-11dup rs11394960
NM_004204.5(PIGQ):c.1069+22del
NM_004204.5(PIGQ):c.1461C>G (p.Leu487=) rs1045274

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