ClinVar Miner

List of variants in gene ARFGEF1-DT, CPA6 studied for epilepsy

Included ClinVar conditions (438):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_020361.5(CPA6):c.746A>G (p.Asn249Ser) rs17343819 0.11318
NM_020361.5(CPA6):c.*328A>G rs3395 0.02890
NM_020361.5(CPA6):c.*242T>C rs527673781 0.00486
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.799G>A (p.Gly267Arg) rs61738009 0.00239
NM_020361.5(CPA6):c.1077G>A (p.Gln359=) rs143536122 0.00132
NM_020361.5(CPA6):c.916G>A (p.Val306Ile) rs147046973 0.00075
NM_020361.5(CPA6):c.932G>A (p.Arg311Gln) rs143321447 0.00057
NM_020361.5(CPA6):c.759G>A (p.Trp253Ter) rs139178030 0.00052
NM_020361.5(CPA6):c.*132C>T rs193137313 0.00041
NM_020361.5(CPA6):c.1271C>T (p.Ala424Val) rs72654981 0.00024
NM_020361.5(CPA6):c.931C>T (p.Arg311Ter) rs139145929 0.00023
NM_020361.5(CPA6):c.*286A>G rs1370253960 0.00007
NM_020361.5(CPA6):c.1021A>G (p.Ile341Val) rs766177388 0.00006
NM_020361.5(CPA6):c.1126+13C>T rs768409721 0.00005
NM_020361.5(CPA6):c.1121C>T (p.Thr374Met) rs769320961 0.00004
NM_020361.5(CPA6):c.791G>A (p.Arg264His) rs752555064 0.00004
NM_020361.5(CPA6):c.902C>T (p.Pro301Leu) rs753468111 0.00003
NM_020361.5(CPA6):c.920C>T (p.Ala307Val) rs143107403 0.00003
NM_020361.5(CPA6):c.*260A>C rs531558365 0.00002
NM_020361.5(CPA6):c.725G>T (p.Gly242Val) rs372728943 0.00002
NM_020361.5(CPA6):c.1246C>T (p.Pro416Ser) rs759525269 0.00001
NM_020361.5(CPA6):c.1288A>G (p.Met430Val) rs774898194 0.00001
NC_000008.11:g.(?_67476661)_(67485906_?)del
NM_020361.5(CPA6):c.1007A>G (p.Tyr336Cys)
NM_020361.5(CPA6):c.1096T>C (p.Tyr366His) rs1809934047
NM_020361.5(CPA6):c.1127-25_1127-24dup rs60236534
NM_020361.5(CPA6):c.1127-25dup rs60236534
NM_020361.5(CPA6):c.1205C>A (p.Thr402Asn)
NM_020361.5(CPA6):c.1207G>T (p.Gly403Ter)
NM_020361.5(CPA6):c.1223T>C (p.Leu408Ser)
NM_020361.5(CPA6):c.1294C>A (p.Leu432Met) rs569889471
NM_020361.5(CPA6):c.715A>G (p.Asn239Asp) rs886063079
NM_020361.5(CPA6):c.757T>G (p.Trp253Gly) rs781369203
NM_020361.5(CPA6):c.797G>T (p.Arg266Leu) rs140612122
NM_020361.5(CPA6):c.871A>G (p.Thr291Ala)
NM_020361.5(CPA6):c.994T>C (p.Tyr332His) rs1554662194

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