ClinVar Miner

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

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_020361.5(CPA6):c.133T>C (p.Phe45Leu) rs10957393 0.25907
NM_020361.5(CPA6):c.746A>G (p.Asn249Ser) rs17343819 0.11318
NM_020361.5(CPA6):c.518C>G (p.Ser173Cys) rs17853192 0.06550
NM_020361.5(CPA6):c.809C>T (p.Ala270Val) rs114402678 0.00300
NM_020361.5(CPA6):c.975A>G (p.Ala325=) rs138313759 0.00299
NM_020361.5(CPA6):c.637-3T>C rs138798669 0.00289
NM_020361.5(CPA6):c.1237C>T (p.Leu413Phe) rs142597675 0.00266
NM_020361.5(CPA6):c.1077G>A (p.Gln359=) rs143536122 0.00132
NM_020361.5(CPA6):c.690A>G (p.Leu230=) rs199565101 0.00006
NM_020361.5(CPA6):c.813T>C (p.Asn271=) rs200216386 0.00003

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