ClinVar Miner

List of variants in gene PHACTR1 studied for epilepsy

Included ClinVar conditions (435):
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Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_030948.6(PHACTR1):c.664+2178C>G rs761790090 0.00006
NM_030948.6(PHACTR1):c.1000G>C (p.Val334Leu)
NM_030948.6(PHACTR1):c.1043G>A (p.Gly348Asp)
NM_030948.6(PHACTR1):c.1252G>T (p.Val418Phe) rs756423380
NM_030948.6(PHACTR1):c.1256G>C (p.Cys419Ser) rs1468591163
NM_030948.6(PHACTR1):c.1278C>G (p.Ile426Met)
NM_030948.6(PHACTR1):c.1388C>T (p.Thr463Ile)
NM_030948.6(PHACTR1):c.163A>G (p.Ile55Val) rs928863874
NM_030948.6(PHACTR1):c.190C>G (p.Arg64Gly)
NM_030948.6(PHACTR1):c.206C>A (p.Thr69Lys)
NM_030948.6(PHACTR1):c.209C>G (p.Pro70Arg)
NM_030948.6(PHACTR1):c.250+8924C>G rs1427631629
NM_030948.6(PHACTR1):c.251-39420G>T
NM_030948.6(PHACTR1):c.259G>A (p.Val87Met)
NM_030948.6(PHACTR1):c.275C>T (p.Ala92Val) rs767982489
NM_030948.6(PHACTR1):c.323G>A (p.Arg108His)
NM_030948.6(PHACTR1):c.580C>G (p.Leu194Val)
NM_030948.6(PHACTR1):c.664+2247C>A rs1762647053
NM_030948.6(PHACTR1):c.664+2260T>A rs1322402598
NM_030948.6(PHACTR1):c.917_918delinsTT (p.His306Leu)
NM_030948.6(PHACTR1):c.920C>T (p.Pro307Leu)
NM_030948.6(PHACTR1):c.964A>G (p.Met322Val)

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