ClinVar Miner

List of variants in gene ARFGEF1-DT, CPA6 studied for Febrile seizures, familial, 11

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Total variants: 63
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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.809C>T (p.Ala270Val) rs114402678 0.00300
NM_020361.5(CPA6):c.975A>G (p.Ala325=) rs138313759 0.00299
NM_020361.5(CPA6):c.637-3T>C rs138798669 0.00289
NM_020361.5(CPA6):c.1237C>T (p.Leu413Phe) rs142597675 0.00266
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.1271C>T (p.Ala424Val) rs72654981 0.00024
NM_020361.5(CPA6):c.786G>T (p.Arg262Ser) rs763794254 0.00024
NM_020361.5(CPA6):c.931C>T (p.Arg311Ter) rs139145929 0.00023
NM_020361.5(CPA6):c.1087G>A (p.Gly363Arg) rs368528528 0.00015
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.1021A>G (p.Ile341Val) rs766177388 0.00006
NM_020361.5(CPA6):c.1086C>T (p.Tyr362=) rs371787488 0.00006
NM_020361.5(CPA6):c.690A>G (p.Leu230=) rs199565101 0.00006
NM_020361.5(CPA6):c.707C>T (p.Pro236Leu) rs201552815 0.00006
NM_020361.5(CPA6):c.919G>A (p.Ala307Thr) rs767858182 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.1019C>T (p.Thr340Ile) rs766388803 0.00004
NM_020361.5(CPA6):c.1192G>A (p.Glu398Lys) rs775233588 0.00004
NM_020361.5(CPA6):c.791G>A (p.Arg264His) rs752555064 0.00004
NM_020361.5(CPA6):c.1090G>A (p.Val364Ile) rs754011349 0.00003
NM_020361.5(CPA6):c.1199G>A (p.Arg400His) rs746177954 0.00003
NM_020361.5(CPA6):c.813T>C (p.Asn271=) rs200216386 0.00003
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.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.725G>T (p.Gly242Val) rs372728943 0.00002
NM_020361.5(CPA6):c.1111G>A (p.Ala371Thr) rs890812699 0.00001
NM_020361.5(CPA6):c.1118C>A (p.Thr373Lys) rs564259689 0.00001
NM_020361.5(CPA6):c.1122G>A (p.Thr374=) rs747623971 0.00001
NM_020361.5(CPA6):c.1288A>G (p.Met430Val) rs774898194 0.00001
NM_020361.5(CPA6):c.650A>G (p.Tyr217Cys) rs775260568 0.00001
NM_020361.5(CPA6):c.677T>A (p.Met226Lys) rs1247779941 0.00001
NM_020361.5(CPA6):c.688C>G (p.Leu230Val) rs762667453 0.00001
NM_020361.5(CPA6):c.735T>C (p.Phe245=) rs745513116 0.00001
NM_020361.5(CPA6):c.858C>T (p.His286=) rs752773496 0.00001
NM_020361.5(CPA6):c.1027A>G (p.Asn343Asp) rs961314522
NM_020361.5(CPA6):c.1039G>C (p.Val347Leu) rs1810087622
NM_020361.5(CPA6):c.1042-4A>C rs367820074
NM_020361.5(CPA6):c.1072C>T (p.Leu358Phe) rs569248207
NM_020361.5(CPA6):c.1117A>G (p.Thr373Ala) rs1809932997
NM_020361.5(CPA6):c.1127-7C>T rs879134727
NM_020361.5(CPA6):c.1298T>G (p.Leu433Arg) rs1016170417
NM_020361.5(CPA6):c.1308T>C (p.Cys436=) rs1587406956
NM_020361.5(CPA6):c.676dup (p.Met226fs) rs2128961373
NM_020361.5(CPA6):c.704T>C (p.Met235Thr) rs1811438785
NM_020361.5(CPA6):c.720C>G (p.Val240=) rs1811437940
NM_020361.5(CPA6):c.747+4A>G rs1811436335
NM_020361.5(CPA6):c.748-3T>C rs1227319659
NM_020361.5(CPA6):c.757T>C (p.Trp253Arg) rs781369203
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.861T>C (p.Pro287=) rs1186379773
NM_020361.5(CPA6):c.903G>A (p.Pro301=) rs138279913
NM_020361.5(CPA6):c.905A>G (p.Glu302Gly) rs1587419865

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