ClinVar Miner

List of variants in gene combination CPA6, LOC102724708 reported as uncertain significance for Febrile seizures, familial, 11

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Total variants: 15
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HGVS dbSNP
NM_020361.5(CPA6):c.1019C>T (p.Thr340Ile)
NM_020361.5(CPA6):c.1021A>G (p.Ile341Val) rs766177388
NM_020361.5(CPA6):c.1087G>A (p.Gly363Arg) rs368528528
NM_020361.5(CPA6):c.1192G>A (p.Glu398Lys)
NM_020361.5(CPA6):c.1199G>A (p.Arg400His) rs746177954
NM_020361.5(CPA6):c.1271C>T (p.Ala424Val) rs72654981
NM_020361.5(CPA6):c.707C>T (p.Pro236Leu) rs201552815
NM_020361.5(CPA6):c.725G>T (p.Gly242Val)
NM_020361.5(CPA6):c.757T>C (p.Trp253Arg) rs781369203
NM_020361.5(CPA6):c.757T>G (p.Trp253Gly) rs781369203
NM_020361.5(CPA6):c.791G>A (p.Arg264His) rs752555064
NM_020361.5(CPA6):c.797G>T (p.Arg266Leu) rs140612122
NM_020361.5(CPA6):c.902C>T (p.Pro301Leu) rs753468111
NM_020361.5(CPA6):c.905A>G (p.Glu302Gly)
NM_020361.5(CPA6):c.931C>T (p.Arg311Ter) rs139145929

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