ClinVar Miner

List of variants studied for Familial temporal lobe epilepsy 2 by Illumina Laboratory Services, Illumina

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_020361.4(CPA6):c.-269G>A rs2553663 0.65179
NM_020361.5(CPA6):c.-11_-10del rs531326049 0.00031
NM_020361.4(CPA6):c.-222_-220delGCT rs144013159
NM_020361.5(CPA6):c.-160del rs796925267
NM_020361.5(CPA6):c.1127-25_1127-24dup rs60236534
NM_020361.5(CPA6):c.1127-25dup rs60236534

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