ClinVar Miner

List of variants reported as uncertain significance for Febrile seizures, familial, 11 by Invitae

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Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_020361.5(CPA6):c.326T>C (p.Ile109Thr) rs151119622 0.00029
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.624G>T (p.Trp208Cys) rs762000090 0.00014
NM_020361.5(CPA6):c.581G>A (p.Gly194Asp) rs201589247 0.00010
NM_020361.5(CPA6):c.1021A>G (p.Ile341Val) rs766177388 0.00006
NM_020361.5(CPA6):c.274C>T (p.Arg92Ter) rs774401459 0.00006
NM_020361.5(CPA6):c.557A>G (p.Lys186Arg) rs199576384 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.229T>A (p.Ser77Thr) rs780171379 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.275G>A (p.Arg92Gln) rs147475942 0.00004
NM_020361.5(CPA6):c.374A>G (p.Gln125Arg) rs200114239 0.00004
NM_020361.5(CPA6):c.791G>A (p.Arg264His) rs752555064 0.00004
NM_020361.5(CPA6):c.105C>A (p.Asn35Lys) rs530829401 0.00003
NM_020361.5(CPA6):c.107G>T (p.Arg36Leu) rs183899632 0.00003
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.127A>G (p.Ile43Val) rs766547893 0.00003
NM_020361.5(CPA6):c.19C>T (p.Arg7Cys) rs138360068 0.00003
NM_020361.5(CPA6):c.902C>T (p.Pro301Leu) rs753468111 0.00003
NM_020361.5(CPA6):c.382C>T (p.Arg128Ter) rs768188762 0.00002
NM_020361.5(CPA6):c.383G>A (p.Arg128Gln) rs779117472 0.00002
NM_020361.5(CPA6):c.397G>C (p.Gly133Arg) rs746521547 0.00002
NM_020361.5(CPA6):c.534+4A>G rs766728291 0.00002
NM_020361.5(CPA6):c.551G>A (p.Arg184Gln) rs768944284 0.00002
NM_020361.5(CPA6):c.725G>T (p.Gly242Val) rs372728943 0.00002
NM_020361.5(CPA6):c.106C>T (p.Arg36Cys) rs752233230 0.00001
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.1288A>G (p.Met430Val) rs774898194 0.00001
NM_020361.5(CPA6):c.163del (p.Ala55fs) rs760392592 0.00001
NM_020361.5(CPA6):c.170A>G (p.Lys57Arg) rs1188067416 0.00001
NM_020361.5(CPA6):c.234G>A (p.Glu78=) rs1239973110 0.00001
NM_020361.5(CPA6):c.289T>C (p.Phe97Leu) rs1249651960 0.00001
NM_020361.5(CPA6):c.290T>C (p.Phe97Ser) rs372902713 0.00001
NM_020361.5(CPA6):c.317A>T (p.Lys106Met) rs1044751209 0.00001
NM_020361.5(CPA6):c.360C>A (p.Ser120Arg) rs1277121732 0.00001
NM_020361.5(CPA6):c.419A>G (p.His140Arg) rs199809258 0.00001
NM_020361.5(CPA6):c.494T>C (p.Ile165Thr) rs1487624789 0.00001
NM_020361.5(CPA6):c.545G>A (p.Arg182Gln) rs765453517 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.80C>T (p.Pro27Leu) rs757926740 0.00001
NC_000008.11:g.(?_67422484)_(67434260_?)dup
NC_000008.11:g.(?_67422484)_(67746149_?)dup
NC_000008.11:g.(?_67483748)_(67484809_?)del
NC_000008.11:g.(?_67624156)_(67624271_?)del
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.1072C>T (p.Leu358Phe) rs569248207
NM_020361.5(CPA6):c.1117A>G (p.Thr373Ala) rs1809932997
NM_020361.5(CPA6):c.116+5G>C rs1281394588
NM_020361.5(CPA6):c.125T>C (p.Val42Ala) rs1554526426
NM_020361.5(CPA6):c.1298T>G (p.Leu433Arg) rs1016170417
NM_020361.5(CPA6):c.129_130del (p.Ile43fs) rs1587646001
NM_020361.5(CPA6):c.192+4A>C rs775478331
NM_020361.5(CPA6):c.192+5_192+15del rs1429763120
NM_020361.5(CPA6):c.20G>A (p.Arg7His) rs373565150
NM_020361.5(CPA6):c.318G>C (p.Lys106Asn) rs886063081
NM_020361.5(CPA6):c.329A>T (p.Glu110Val) rs1480644555
NM_020361.5(CPA6):c.380A>G (p.Asn127Ser) rs1812043338
NM_020361.5(CPA6):c.488_490del (p.Phe163del) rs1587505484
NM_020361.5(CPA6):c.517T>G (p.Ser173Ala) rs1587505420
NM_020361.5(CPA6):c.535-1G>A rs766751629
NM_020361.5(CPA6):c.535-1G>T rs766751629
NM_020361.5(CPA6):c.636+5G>A rs1166618180
NM_020361.5(CPA6):c.63T>G (p.Phe21Leu) rs1818002133
NM_020361.5(CPA6):c.676dup (p.Met226fs) rs2128961373
NM_020361.5(CPA6):c.704T>C (p.Met235Thr) rs1811438785
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.905A>G (p.Glu302Gly) rs1587419865

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