ClinVar Miner

List of variants in gene CFHR5 studied for not provided

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Gene type:
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Total variants: 171
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HGVS dbSNP gnomAD frequency
NM_030787.4(CFHR5):c.431-228A>G rs7537588 0.96477
NM_030787.4(CFHR5):c.58+178T>C rs12755054 0.42960
NM_030787.4(CFHR5):c.253+289C>T rs1759016 0.42914
NM_030787.4(CFHR5):c.*802T>G rs10922153 0.38442
NM_030787.4(CFHR5):c.431-204T>A rs10922152 0.38434
NM_030787.4(CFHR5):c.1147+24G>T rs1332664 0.25865
NM_030787.4(CFHR5):c.58+287C>T rs12731209 0.20610
NC_000001.11:g.196977290T>A rs9427660 0.20245
NM_030787.4(CFHR5):c.254-183G>A rs78077089 0.20159
NM_030787.4(CFHR5):c.253+59C>T rs45489701 0.20035
NM_030787.4(CFHR5):c.-20T>C rs9427662 0.19169
NC_000001.11:g.196977416T>C rs9427661 0.19144
NC_000001.11:g.196977318G>A rs9427942 0.19105
NM_030787.4(CFHR5):c.58+17T>A rs3748557 0.17992
NM_030787.4(CFHR5):c.434G>A (p.Gly145Glu) rs57960694 0.03706
NM_030787.4(CFHR5):c.59-145A>G rs76216631 0.02037
NM_030787.4(CFHR5):c.1067G>A (p.Arg356His) rs35662416 0.01746
NM_030787.4(CFHR5):c.507C>T (p.Asp169=) rs34533956 0.01500
NM_030787.4(CFHR5):c.254-8T>G rs114023763 0.01451
NM_030787.4(CFHR5):c.330A>C (p.Val110=) rs61745675 0.01447
NM_030787.4(CFHR5):c.136C>T (p.Pro46Ser) rs12097550 0.01068
NM_030787.4(CFHR5):c.832G>A (p.Gly278Ser) rs139017763 0.00815
NM_030787.4(CFHR5):c.1704T>A (p.Cys568Ter) rs143140599 0.00764
NM_030787.4(CFHR5):c.429T>C (p.Thr143=) rs140215003 0.00665
NM_030787.4(CFHR5):c.243G>A (p.Pro81=) rs7532068 0.00444
NM_030787.4(CFHR5):c.1135G>C (p.Val379Leu) rs111327589 0.00395
NM_030787.4(CFHR5):c.1586T>G (p.Leu529Arg) rs16840956 0.00386
NM_030787.4(CFHR5):c.254-5C>T rs185709089 0.00378
NM_030787.4(CFHR5):c.732C>T (p.Asn244=) rs41306229 0.00250
NM_030787.4(CFHR5):c.622T>C (p.Cys208Arg) rs41299613 0.00157
NM_030787.4(CFHR5):c.1561T>A (p.Leu521Ile) rs35957013 0.00079
NM_030787.4(CFHR5):c.432A>T (p.Lys144Asn) rs181511327 0.00076
NM_030787.4(CFHR5):c.1412G>A (p.Gly471Glu) rs144438200 0.00066
NM_030787.4(CFHR5):c.835T>A (p.Tyr279Asn) rs143240067 0.00048
NM_030787.4(CFHR5):c.*741T>G rs117389812 0.00047
NM_030787.4(CFHR5):c.232T>C (p.Ser78Pro) rs146025130 0.00046
NM_030787.4(CFHR5):c.465T>C (p.Asn155=) rs139260377 0.00034
NM_030787.4(CFHR5):c.576T>G (p.Phe192Leu) rs151134004 0.00024
NM_030787.4(CFHR5):c.508G>A (p.Val170Met) rs201073457 0.00019
NM_030787.4(CFHR5):c.880G>A (p.Glu294Lys) rs201084185 0.00019
NM_030787.4(CFHR5):c.533A>G (p.Asn178Ser) rs200427185 0.00013
NM_030787.4(CFHR5):c.1116C>T (p.Asn372=) rs556270179 0.00009
NM_030787.4(CFHR5):c.1322G>A (p.Arg441His) rs776063846 0.00006
NM_030787.4(CFHR5):c.1331-2A>G rs148301128 0.00006
NM_030787.4(CFHR5):c.242C>T (p.Pro81Leu) rs544857720 0.00006
NM_030787.4(CFHR5):c.1560G>A (p.Gln520=) rs202093724 0.00005
NM_030787.4(CFHR5):c.1641G>A (p.Ala547=) rs74323799 0.00005
NM_030787.4(CFHR5):c.608-6T>C rs373318468 0.00004
NM_030787.4(CFHR5):c.846G>A (p.Pro282=) rs754917131 0.00004
NM_030787.4(CFHR5):c.329T>C (p.Val110Ala) rs140691305 0.00003
NM_030787.4(CFHR5):c.1029G>A (p.Lys343=) rs555221057 0.00002
NM_030787.4(CFHR5):c.1647A>G (p.Ile549Met) rs142546471 0.00002
NM_030787.4(CFHR5):c.829T>A (p.Tyr277Asn) rs318240756 0.00002
NM_030787.4(CFHR5):c.1155G>T (p.Arg385Ser) rs141358257 0.00001
NM_030787.4(CFHR5):c.1303C>T (p.Arg435Ter) rs758392186 0.00001
NM_030787.4(CFHR5):c.557C>A (p.Ser186Ter) rs772849641 0.00001
NM_030787.4(CFHR5):c.583T>A (p.Ser195Thr) rs318240755 0.00001
NM_030787.4(CFHR5):c.826G>A (p.Glu276Lys) rs199531514 0.00001
NC_000001.10:g.(?_196946795)_(196952229_?)del
NC_000001.10:g.(?_196963190)_(196967454_?)dup
NC_000001.10:g.(?_196963190)_(196973993_?)del
NC_000001.11:g.196977306del rs138249543
NM_030787.3:c.431-?_1513+?del
NM_030787.4(CFHR5):c.1042G>T (p.Glu348Ter)
NM_030787.4(CFHR5):c.1060A>G (p.Arg354Gly)
NM_030787.4(CFHR5):c.1066C>T (p.Arg356Cys)
NM_030787.4(CFHR5):c.1092A>T (p.Arg364Ser)
NM_030787.4(CFHR5):c.1153dup (p.Arg385fs)
NM_030787.4(CFHR5):c.1159C>A (p.Gln387Lys)
NM_030787.4(CFHR5):c.1170A>T (p.Pro390=)
NM_030787.4(CFHR5):c.1195C>T (p.Gln399Ter) rs772780646
NM_030787.4(CFHR5):c.1202T>C (p.Met401Thr)
NM_030787.4(CFHR5):c.1213G>A (p.Val405Met)
NM_030787.4(CFHR5):c.1225del (p.Asp409fs) rs771972507
NM_030787.4(CFHR5):c.1229G>A (p.Gly410Glu)
NM_030787.4(CFHR5):c.122C>G (p.Pro41Arg)
NM_030787.4(CFHR5):c.1249T>C (p.Cys417Arg)
NM_030787.4(CFHR5):c.1308G>T (p.Trp436Cys) rs201265664
NM_030787.4(CFHR5):c.1337C>A (p.Thr446Asn)
NM_030787.4(CFHR5):c.1350G>A (p.Gly450=) rs77159278
NM_030787.4(CFHR5):c.1357C>T (p.Pro453Ser)
NM_030787.4(CFHR5):c.1385C>T (p.Ser462Leu)
NM_030787.4(CFHR5):c.1430G>A (p.Arg477His)
NM_030787.4(CFHR5):c.1453C>T (p.Gln485Ter)
NM_030787.4(CFHR5):c.1487_1488del (p.Gln496fs)
NM_030787.4(CFHR5):c.1513+13T>C
NM_030787.4(CFHR5):c.1535A>C (p.Glu512Ala)
NM_030787.4(CFHR5):c.1541T>C (p.Met514Thr)
NM_030787.4(CFHR5):c.1541T>G (p.Met514Arg) rs141321678
NM_030787.4(CFHR5):c.1558_1559del (p.Gln520fs)
NM_030787.4(CFHR5):c.1604A>G (p.Asp535Gly)
NM_030787.4(CFHR5):c.1615T>G (p.Phe539Val)
NM_030787.4(CFHR5):c.1640C>T (p.Ala547Val)
NM_030787.4(CFHR5):c.1664G>C (p.Arg555Pro)
NM_030787.4(CFHR5):c.1678G>A (p.Glu560Lys)
NM_030787.4(CFHR5):c.1690G>T (p.Glu564Ter)
NM_030787.4(CFHR5):c.1695T>C (p.Tyr565=)
NM_030787.4(CFHR5):c.1696C>T (p.Pro566Ser)
NM_030787.4(CFHR5):c.1697C>T (p.Pro566Leu)
NM_030787.4(CFHR5):c.1699A>G (p.Ile567Val)
NM_030787.4(CFHR5):c.1709G>A (p.Ter570=)
NM_030787.4(CFHR5):c.205C>T (p.Arg69Cys)
NM_030787.4(CFHR5):c.206G>A (p.Arg69His) rs375843181
NM_030787.4(CFHR5):c.215G>T (p.Cys72Phe)
NM_030787.4(CFHR5):c.224A>G (p.Glu75Gly)
NM_030787.4(CFHR5):c.239C>A (p.Thr80Lys)
NM_030787.4(CFHR5):c.253+9del
NM_030787.4(CFHR5):c.254-2_266dup rs781568341
NM_030787.4(CFHR5):c.258G>T (p.Met86Ile)
NM_030787.4(CFHR5):c.282_283insCTTCAGGACTTC (p.Asn94_Gly95insLeuGlnAspPhe)
NM_030787.4(CFHR5):c.283G>A (p.Gly95Ser)
NM_030787.4(CFHR5):c.285T>C (p.Gly95=)
NM_030787.4(CFHR5):c.314T>G (p.Leu105Arg) rs318240754
NM_030787.4(CFHR5):c.344A>G (p.Asn115Ser)
NM_030787.4(CFHR5):c.384G>T (p.Ser128=) rs147791058
NM_030787.4(CFHR5):c.390A>G (p.Val130=)
NM_030787.4(CFHR5):c.394C>A (p.Arg132=)
NM_030787.4(CFHR5):c.395G>A (p.Arg132Gln)
NM_030787.4(CFHR5):c.419G>T (p.Cys140Phe)
NM_030787.4(CFHR5):c.427A>C (p.Thr143Pro) rs138529008
NM_030787.4(CFHR5):c.430+5G>T
NM_030787.4(CFHR5):c.431-15T>C
NM_030787.4(CFHR5):c.431A>G (p.Lys144Arg)
NM_030787.4(CFHR5):c.475C>G (p.Gln159Glu)
NM_030787.4(CFHR5):c.485_486dup (p.Glu163fs) rs565457964
NM_030787.4(CFHR5):c.486A>G (p.Lys162=)
NM_030787.4(CFHR5):c.486dup (p.Glu163fs) rs565457964
NM_030787.4(CFHR5):c.493_494delinsCT (p.Tyr165Leu)
NM_030787.4(CFHR5):c.539T>C (p.Ile180Thr)
NM_030787.4(CFHR5):c.549A>T (p.Gly183=)
NM_030787.4(CFHR5):c.58+19C>T
NM_030787.4(CFHR5):c.59-15T>C
NM_030787.4(CFHR5):c.599C>A (p.Thr200Lys)
NM_030787.4(CFHR5):c.607+19A>G
NM_030787.4(CFHR5):c.607+4A>G
NM_030787.4(CFHR5):c.608-18A>G
NM_030787.4(CFHR5):c.608G>A (p.Gly203Glu)
NM_030787.4(CFHR5):c.61del (p.Thr21fs)
NM_030787.4(CFHR5):c.621A>G (p.Ser207=)
NM_030787.4(CFHR5):c.62C>T (p.Thr21Ile)
NM_030787.4(CFHR5):c.646_647inv (p.Asn216Phe)
NM_030787.4(CFHR5):c.647A>G (p.Asn216Ser) rs147488267
NM_030787.4(CFHR5):c.678del (p.Glu226fs) rs368209619
NM_030787.4(CFHR5):c.681T>C (p.Tyr227=) rs777594999
NM_030787.4(CFHR5):c.700G>A (p.Glu234Lys)
NM_030787.4(CFHR5):c.703T>C (p.Tyr235His)
NM_030787.4(CFHR5):c.711C>A (p.Cys237Ter)
NM_030787.4(CFHR5):c.717T>C (p.Pro239=)
NM_030787.4(CFHR5):c.71A>C (p.Asp24Ala)
NM_030787.4(CFHR5):c.733G>A (p.Gly245Arg)
NM_030787.4(CFHR5):c.74T>A (p.Phe25Tyr)
NM_030787.4(CFHR5):c.751T>C (p.Cys251Arg)
NM_030787.4(CFHR5):c.758A>G (p.Asp253Gly)
NM_030787.4(CFHR5):c.759T>G (p.Asp253Glu)
NM_030787.4(CFHR5):c.779C>T (p.Pro260Leu)
NM_030787.4(CFHR5):c.804_805del (p.Cys269fs)
NM_030787.4(CFHR5):c.825C>T (p.Leu275=)
NM_030787.4(CFHR5):c.831C>T (p.Tyr277=)
NM_030787.4(CFHR5):c.841C>A (p.Gln281Lys)
NM_030787.4(CFHR5):c.879C>T (p.Val293=)
NM_030787.4(CFHR5):c.896dup (p.Asn299fs) rs1233073714
NM_030787.4(CFHR5):c.903T>C (p.Tyr301=) rs886045751
NM_030787.4(CFHR5):c.911T>C (p.Ile304Thr)
NM_030787.4(CFHR5):c.962T>C (p.Met321Thr)
NM_030787.4(CFHR5):c.970+15C>T
NM_030787.4(CFHR5):c.970+2T>G rs550747814
NM_030787.4(CFHR5):c.971-11del
NM_030787.4(CFHR5):c.971-6T>G
NM_030787.4(CFHR5):c.986_988del (p.Lys329del) rs752782146
NM_030787.4(CFHR5):c.993C>A (p.Cys331Ter) rs751010317
NM_030787.4(CFHR5):c.999A>G (p.Ile333Met)

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