ClinVar Miner

List of variants studied for epilepsy, idiopathic generalized, susceptibility to, 14 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_020708.5(SLC12A5):c.2439G>A (p.Met813Ile) rs200191107 0.00014
NM_020708.5(SLC12A5):c.3260-3C>A rs762852631 0.00009
NM_020708.5(SLC12A5):c.1306A>G (p.Ile436Val) rs140326431 0.00001
NM_020708.5(SLC12A5):c.2143T>C (p.Phe715Leu) rs890647462 0.00001
NM_020708.5(SLC12A5):c.2735G>A (p.Arg912His) rs764216462 0.00001
NM_020708.5(SLC12A5):c.3145C>T (p.Arg1049Cys) rs548424453 0.00001
NM_020708.5(SLC12A5):c.2452C>G (p.Pro818Ala) rs201268862

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