ClinVar Miner

List of variants in gene CPA6 reported as uncertain significance for benign familial mesial temporal lobe epilepsy

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 26
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HGVS dbSNP
NM_020361.4(CPA6):c.-247C>A rs530580560
NM_020361.5(CPA6):c.-108G>A
NM_020361.5(CPA6):c.-191T>C
NM_020361.5(CPA6):c.-203C>T
NM_020361.5(CPA6):c.-45C>A rs767794744
NM_020361.5(CPA6):c.-51C>A
NM_020361.5(CPA6):c.-76T>G rs886063083
NM_020361.5(CPA6):c.-87C>A
NM_020361.5(CPA6):c.109T>C (p.Tyr37His) rs886063082
NM_020361.5(CPA6):c.116+11C>A
NM_020361.5(CPA6):c.140C>G (p.Pro47Arg)
NM_020361.5(CPA6):c.20G>A (p.Arg7His) rs373565150
NM_020361.5(CPA6):c.26G>A (p.Gly9Asp)
NM_020361.5(CPA6):c.318G>C (p.Lys106Asn) rs886063081
NM_020361.5(CPA6):c.326T>C (p.Ile109Thr) rs151119622
NM_020361.5(CPA6):c.383G>A (p.Arg128Gln) rs779117472
NM_020361.5(CPA6):c.453T>C (p.His151=)
NM_020361.5(CPA6):c.466C>T (p.His156Tyr)
NM_020361.5(CPA6):c.491C>T (p.Ser164Phe) rs267601975
NM_020361.5(CPA6):c.505T>C (p.Tyr169His) rs201643526
NM_020361.5(CPA6):c.534+4A>G rs766728291
NM_020361.5(CPA6):c.538G>A (p.Gly180Ser) rs886063080
NM_020361.5(CPA6):c.544C>T (p.Arg182Ter) rs773734224
NM_020361.5(CPA6):c.581G>A (p.Gly194Asp) rs201589247
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu) rs35993949
NM_020361.5(CPA6):c.98A>G (p.Tyr33Cys) rs368736137

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