ClinVar Miner

List of variants reported as likely benign for Febrile seizures, familial, 11

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Total variants: 41
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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.619C>G (p.Gln207Glu) rs35993949 0.00121
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.61T>A (p.Phe21Ile) rs147067921 0.00024
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.193-4A>G rs776127035 0.00008
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.54del (p.Trp19fs) rs778807405 0.00005
NM_020361.5(CPA6):c.505T>C (p.Tyr169His) rs201643526 0.00003
NM_020361.5(CPA6):c.920C>T (p.Ala307Val) rs143107403 0.00003
NM_020361.5(CPA6):c.98A>G (p.Tyr33Cys) rs368736137 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.317+8T>C rs748471446 0.00002
NM_020361.5(CPA6):c.102C>T (p.Asn34=) rs1228904142 0.00001
NM_020361.5(CPA6):c.1122G>A (p.Thr374=) rs747623971 0.00001
NM_020361.5(CPA6):c.255T>C (p.His85=) rs539581100 0.00001
NM_020361.5(CPA6):c.426A>G (p.Leu142=) rs777807877 0.00001
NM_020361.5(CPA6):c.529T>C (p.Leu177=) rs774952258 0.00001
NM_020361.5(CPA6):c.597A>G (p.Glu199=) rs751220431 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.111T>C (p.Tyr37=) rs1587747257
NM_020361.5(CPA6):c.1127-7C>T rs879134727
NM_020361.5(CPA6):c.117-9_117-5del rs2128986980
NM_020361.5(CPA6):c.12C>T (p.Leu4=) rs754451669
NM_020361.5(CPA6):c.1308T>C (p.Cys436=) rs1587406956
NM_020361.5(CPA6):c.21C>T (p.Arg7=) rs2129005002
NM_020361.5(CPA6):c.24G>A (p.Arg8=) rs777248963
NM_020361.5(CPA6):c.266del (p.Asn89fs) rs770265319
NM_020361.5(CPA6):c.579T>C (p.Cys193=) rs1811938981
NM_020361.5(CPA6):c.621G>A (p.Gln207=) rs1452381225
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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