ClinVar Miner

List of variants reported as uncertain significance for epilepsy by Mayo Clinic Laboratories, Mayo Clinic

Included ClinVar conditions (438):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_021912.5(GABRB3):c.31C>T (p.Pro11Ser) rs25409 0.00354
NM_000726.5(CACNB4):c.44C>G (p.Pro15Arg) rs200662010 0.00201
NM_001199107.2(TBC1D24):c.493G>A (p.Gly165Ser) rs200926225 0.00160
NM_005076.5(CNTN2):c.1405C>A (p.Pro469Thr) rs147693556 0.00148
NM_000726.5(CACNB4):c.5C>T (p.Ser2Phe) rs200092211 0.00091
NM_005045.4(RELN):c.5822T>C (p.Val1941Ala) rs149837553 0.00041
NM_021098.3(CACNA1H):c.3425G>A (p.Arg1142His) rs538758039 0.00006
NM_005045.4(RELN):c.7757C>T (p.Thr2586Ile) rs202172902 0.00004
NM_001199107.2(TBC1D24):c.1253T>C (p.Phe418Ser) rs776176742 0.00001
NM_001330260.2(SCN8A):c.4634C>T (p.Thr1545Ile) rs759753811 0.00001
NM_005097.4(LGI1):c.407G>A (p.Arg136Gln) rs767254591 0.00001
NM_172107.4(KCNQ2):c.1229C>T (p.Pro410Leu) rs752579642 0.00001
NM_000834.5(GRIN2B):c.2422G>A (p.Val808Ile) rs1565455923
NM_001040142.2(SCN2A):c.709_711delinsTTG (p.Ile237Leu) rs1559353139
NM_001040142.2(SCN2A):c.746C>T (p.Ser249Phe) rs1559353186
NM_001134407.3(GRIN2A):c.2554G>T (p.Val852Leu) rs150316865
NM_001242896.3(DEPDC5):c.4309G>T (p.Ala1437Ser) rs1555933951
NM_004519.4(KCNQ3):c.2611C>G (p.Pro871Ala) rs200647826
NM_021098.3(CACNA1H):c.3304G>A (p.Asp1102Asn) rs1555514961
NM_172107.4(KCNQ2):c.2102_2104del (p.Phe701del) rs758334927

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