ClinVar Miner

List of variants in gene combination CPA6, LOC102724708 reported as uncertain significance for adolescent-onset epilepsy syndrome

Included ClinVar conditions (80):
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Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP
NM_020361.4(CPA6):c.*242T>C rs527673781
NM_020361.4(CPA6):c.*260A>C rs531558365
NM_020361.4(CPA6):c.1021A>G (p.Ile341Val) rs766177388
NM_020361.4(CPA6):c.1077G>A (p.Gln359=) rs143536122
NM_020361.4(CPA6):c.1087G>A (p.Gly363Arg) rs368528528
NM_020361.4(CPA6):c.1126+13C>T rs768409721
NM_020361.4(CPA6):c.1127-15dupT rs60236534
NM_020361.4(CPA6):c.1127-16_1127-15dupTT rs60236534
NM_020361.4(CPA6):c.1199G>A (p.Arg400His) rs746177954
NM_020361.4(CPA6):c.1271C>T (p.Ala424Val) rs72654981
NM_020361.4(CPA6):c.1288A>G (p.Met430Val) rs774898194
NM_020361.4(CPA6):c.707C>T (p.Pro236Leu) rs201552815
NM_020361.4(CPA6):c.715A>G (p.Asn239Asp) rs886063079
NM_020361.4(CPA6):c.757T>C (p.Trp253Arg) rs781369203
NM_020361.4(CPA6):c.757T>G (p.Trp253Gly) rs781369203
NM_020361.4(CPA6):c.759G>A (p.Trp253Ter) rs139178030
NM_020361.4(CPA6):c.791G>A (p.Arg264His) rs752555064
NM_020361.4(CPA6):c.797G>T (p.Arg266Leu) rs140612122
NM_020361.4(CPA6):c.902C>T (p.Pro301Leu) rs753468111
NM_020361.4(CPA6):c.931C>T (p.Arg311Ter) rs139145929
NM_020361.4(CPA6):c.932G>A (p.Arg311Gln) rs143321447
NM_020361.4(CPA6):c.975A>G (p.Ala325=) rs138313759
NM_020361.4(CPA6):c.994T>C (p.Tyr332His) rs1554662194

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