ClinVar Miner

List of variants in gene CFP reported as likely benign for not provided

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Total variants: 79
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HGVS dbSNP gnomAD frequency
NM_001145252.3(CFP):c.157G>A (p.Val53Met) rs8177068 0.00274
NM_001145252.3(CFP):c.895G>A (p.Asp299Asn) rs61737993 0.00182
NM_001145252.3(CFP):c.121G>A (p.Gly41Ser) rs374687577 0.00030
NM_001145252.3(CFP):c.663C>T (p.Ser221=) rs367635632 0.00023
NM_001145252.3(CFP):c.1133-6T>C rs755279703 0.00021
NM_001145252.3(CFP):c.582G>T (p.Gly194=) rs781475195 0.00016
NM_001145252.3(CFP):c.77-9C>G rs367959975 0.00009
NM_001145252.3(CFP):c.1245-11del rs752645314 0.00008
NM_001145252.3(CFP):c.227+18G>C rs769946055 0.00008
NM_001145252.3(CFP):c.1374G>A (p.Val458=) rs370014336 0.00007
NM_001145252.3(CFP):c.1244+19T>C rs773460874 0.00003
NM_001145252.3(CFP):c.699T>A (p.Pro233=) rs777757134 0.00003
NM_001145252.3(CFP):c.120C>T (p.Ser40=) rs763653323 0.00002
NM_001145252.3(CFP):c.579C>T (p.His193=) rs752493725 0.00002
NM_001145252.3(CFP):c.849G>A (p.Thr283=) rs768545409 0.00002
NM_001145252.3(CFP):c.87C>T (p.Pro29=) rs747543016 0.00002
NM_001145252.3(CFP):c.909C>T (p.Thr303=) rs757743217 0.00002
NM_001145252.3(CFP):c.1083C>T (p.Ala361=) rs771963405 0.00001
NM_001145252.3(CFP):c.18G>A (p.Ala6=) rs1020912849 0.00001
NM_001145252.3(CFP):c.894C>T (p.Gly298=) rs1404194508 0.00001
NM_001145252.3(CFP):c.1023G>A (p.Pro341=)
NM_001145252.3(CFP):c.1038C>T (p.Arg346=)
NM_001145252.3(CFP):c.1068C>T (p.Asp356=)
NM_001145252.3(CFP):c.1132+15_1132+16del
NM_001145252.3(CFP):c.1132+19G>C
NM_001145252.3(CFP):c.1179C>T (p.Pro393=)
NM_001145252.3(CFP):c.1236C>T (p.Pro412=)
NM_001145252.3(CFP):c.1244+13G>A
NM_001145252.3(CFP):c.1245-14C>T
NM_001145252.3(CFP):c.1320G>A (p.Glu440=) rs2057959898
NM_001145252.3(CFP):c.1324C>T (p.Leu442=)
NM_001145252.3(CFP):c.1329A>G (p.Gln443=)
NM_001145252.3(CFP):c.1332G>A (p.Gly444=)
NM_001145252.3(CFP):c.1335G>A (p.Gln445=)
NM_001145252.3(CFP):c.1407C>G (p.Leu469=)
NM_001145252.3(CFP):c.141G>C (p.Leu47=)
NM_001145252.3(CFP):c.156C>T (p.Ser52=)
NM_001145252.3(CFP):c.210G>A (p.Gly70=) rs1243622202
NM_001145252.3(CFP):c.227+10A>C
NM_001145252.3(CFP):c.227+13C>G
NM_001145252.3(CFP):c.227+14T>G
NM_001145252.3(CFP):c.227+19T>G
NM_001145252.3(CFP):c.227+7G>A
NM_001145252.3(CFP):c.228-11C>T rs1380731149
NM_001145252.3(CFP):c.255A>G (p.Thr85=)
NM_001145252.3(CFP):c.270G>A (p.Ser90=)
NM_001145252.3(CFP):c.276G>A (p.Thr92=)
NM_001145252.3(CFP):c.348A>T (p.Ala116=)
NM_001145252.3(CFP):c.357C>A (p.Thr119=)
NM_001145252.3(CFP):c.403+8_403+10del
NM_001145252.3(CFP):c.404-10T>C
NM_001145252.3(CFP):c.404-19C>T
NM_001145252.3(CFP):c.411C>T (p.Gly137=)
NM_001145252.3(CFP):c.42G>A (p.Pro14=)
NM_001145252.3(CFP):c.444C>T (p.Cys148=)
NM_001145252.3(CFP):c.465G>A (p.Gly155=)
NM_001145252.3(CFP):c.465G>C (p.Gly155=)
NM_001145252.3(CFP):c.468C>G (p.Thr156=)
NM_001145252.3(CFP):c.477C>A (p.Arg159=)
NM_001145252.3(CFP):c.54G>A (p.Leu18=)
NM_001145252.3(CFP):c.574+18del
NM_001145252.3(CFP):c.575-20C>T rs1436451900
NM_001145252.3(CFP):c.612C>T (p.Pro204=)
NM_001145252.3(CFP):c.633T>C (p.Gly211=) rs1384246975
NM_001145252.3(CFP):c.658C>A (p.Arg220=) rs372336803
NM_001145252.3(CFP):c.702T>C (p.Pro234=)
NM_001145252.3(CFP):c.702T>G (p.Pro234=)
NM_001145252.3(CFP):c.729C>T (p.Tyr243=)
NM_001145252.3(CFP):c.766+15G>A
NM_001145252.3(CFP):c.864G>A (p.Val288=)
NM_001145252.3(CFP):c.865C>T (p.Pro289Ser)
NM_001145252.3(CFP):c.873T>C (p.His291=) rs2147936766
NM_001145252.3(CFP):c.879C>T (p.Gly293=)
NM_001145252.3(CFP):c.87C>G (p.Pro29=)
NM_001145252.3(CFP):c.941-14C>A
NM_001145252.3(CFP):c.941-15G>T
NM_001145252.3(CFP):c.941-19T>C
NM_001145252.3(CFP):c.960G>A (p.Ser320=)
NM_001145252.3(CFP):c.984C>T (p.Ile328=)

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