ClinVar Miner

List of variants reported as uncertain significance for Febrile seizures, familial, 11 by Invitae

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Total variants: 33
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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.107G>T (p.Arg36Leu)
NM_020361.5(CPA6):c.1087G>A (p.Gly363Arg) rs368528528
NM_020361.5(CPA6):c.116+5G>C rs1281394588
NM_020361.5(CPA6):c.1192G>A (p.Glu398Lys)
NM_020361.5(CPA6):c.1199G>A (p.Arg400His) rs746177954
NM_020361.5(CPA6):c.125T>C (p.Val42Ala) rs1554526426
NM_020361.5(CPA6):c.1271C>T (p.Ala424Val) rs72654981
NM_020361.5(CPA6):c.127A>G (p.Ile43Val)
NM_020361.5(CPA6):c.129_130del (p.Ile43fs)
NM_020361.5(CPA6):c.163del (p.Ala55fs)
NM_020361.5(CPA6):c.19C>T (p.Arg7Cys)
NM_020361.5(CPA6):c.20G>A (p.Arg7His)
NM_020361.5(CPA6):c.229T>A (p.Ser77Thr)
NM_020361.5(CPA6):c.290T>C (p.Phe97Ser)
NM_020361.5(CPA6):c.326T>C (p.Ile109Thr) rs151119622
NM_020361.5(CPA6):c.329A>T (p.Glu110Val)
NM_020361.5(CPA6):c.488_490del (p.Phe163del)
NM_020361.5(CPA6):c.494T>C (p.Ile165Thr) rs1487624789
NM_020361.5(CPA6):c.517T>G (p.Ser173Ala)
NM_020361.5(CPA6):c.534+4A>G rs766728291
NM_020361.5(CPA6):c.557A>G (p.Lys186Arg) rs199576384
NM_020361.5(CPA6):c.636+5G>A rs1166618180
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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