ClinVar Miner

List of variants in gene combination ARFGEF1-DT, CPA6 reported as likely benign for Febrile seizures, familial, 11

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_020361.5(CPA6):c.799G>A (p.Gly267Arg) rs61738009 0.00239
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.1026C>G (p.Pro342=) rs372964579 0.00013
NM_020361.5(CPA6):c.748-1G>A rs201265791 0.00009
NM_020361.5(CPA6):c.1086C>T (p.Tyr362=) rs371787488 0.00006
NM_020361.5(CPA6):c.957T>G (p.Ala319=) rs553327896 0.00006
NM_020361.5(CPA6):c.1197A>G (p.Leu399=) rs112875997 0.00005
NM_020361.5(CPA6):c.920C>T (p.Ala307Val) rs143107403 0.00003
NM_020361.5(CPA6):c.1182A>G (p.Ala394=) rs768017925 0.00002
NM_020361.5(CPA6):c.1191C>T (p.Phe397=) rs760234221 0.00002
NM_020361.5(CPA6):c.1272T>C (p.Ala424=) rs763682412 0.00002
NM_020361.5(CPA6):c.1122G>A (p.Thr374=) rs747623971 0.00001
NM_020361.5(CPA6):c.858C>T (p.His286=) rs752773496 0.00001
NM_020361.5(CPA6):c.1042-4A>C rs367820074
NM_020361.5(CPA6):c.1127-7C>T rs879134727
NM_020361.5(CPA6):c.1308T>C (p.Cys436=) rs1587406956
NM_020361.5(CPA6):c.720C>G (p.Val240=) rs1811437940
NM_020361.5(CPA6):c.861T>C (p.Pro287=) rs1186379773
NM_020361.5(CPA6):c.903G>A (p.Pro301=) rs138279913

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