ClinVar Miner

List of variants in gene SYNE1 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 151
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HGVS dbSNP gnomAD frequency
NM_182961.4(SYNE1):c.8164G>A (p.Val2722Ile) rs151091241 0.00676
NM_182961.4(SYNE1):c.1964A>G (p.Gln655Arg) rs9397509 0.00615
NM_182961.4(SYNE1):c.24952C>T (p.Leu8318Phe) rs141716975 0.00570
NM_182961.4(SYNE1):c.12000G>A (p.Ala4000=) rs148493518 0.00546
NM_182961.4(SYNE1):c.1878A>G (p.Gln626=) rs62427038 0.00474
NM_182961.4(SYNE1):c.23315G>A (p.Arg7772Gln) rs138787771 0.00432
NM_182961.4(SYNE1):c.11187G>T (p.Lys3729Asn) rs143070183 0.00415
NM_182961.4(SYNE1):c.10037C>A (p.Ser3346Tyr) rs150170988 0.00396
NM_182961.4(SYNE1):c.10056T>C (p.Ser3352=) rs140861713 0.00395
NM_182961.4(SYNE1):c.1983C>T (p.Asn661=) rs149670417 0.00388
NM_182961.4(SYNE1):c.6135T>G (p.Ile2045Met) rs116600265 0.00379
NM_182961.4(SYNE1):c.3188T>C (p.Val1063Ala) rs141464488 0.00359
NM_182961.4(SYNE1):c.2882G>A (p.Arg961Gln) rs76646638 0.00314
NM_182961.4(SYNE1):c.2995G>A (p.Glu999Lys) rs148346599 0.00283
NM_182961.4(SYNE1):c.4162C>T (p.Arg1388Trp) rs34028822 0.00278
NM_182961.4(SYNE1):c.5101G>T (p.Ala1701Ser) rs149758808 0.00275
NM_182961.4(SYNE1):c.13863G>A (p.Thr4621=) rs112266645 0.00274
NM_182961.4(SYNE1):c.8400C>T (p.Leu2800=) rs114747836 0.00268
NM_182961.4(SYNE1):c.25856T>C (p.Leu8619Pro) rs139834542 0.00178
NM_182961.4(SYNE1):c.5999G>A (p.Arg2000Lys) rs149146258 0.00178
NM_182961.4(SYNE1):c.20292T>C (p.Asp6764=) rs73619386 0.00171
NM_182961.4(SYNE1):c.9148C>G (p.Leu3050Val) rs117360770 0.00170
NM_182961.4(SYNE1):c.25091C>T (p.Pro8364Leu) rs148376885 0.00169
NM_182961.4(SYNE1):c.7976C>A (p.Thr2659Asn) rs117480635 0.00166
NM_182961.4(SYNE1):c.25617G>A (p.Glu8539=) rs118187988 0.00154
NM_182961.4(SYNE1):c.1141G>A (p.Asp381Asn) rs146366996 0.00147
NM_182961.4(SYNE1):c.23259C>T (p.Arg7753=) rs139590550 0.00140
NM_182961.4(SYNE1):c.23713G>A (p.Glu7905Lys) rs148997223 0.00138
NM_182961.4(SYNE1):c.9489A>G (p.Gln3163=) rs35379711 0.00133
NM_182961.4(SYNE1):c.9655G>A (p.Val3219Ile) rs140927945 0.00132
NM_182961.4(SYNE1):c.6934T>C (p.Phe2312Leu) rs138004884 0.00126
NM_182961.4(SYNE1):c.8973G>A (p.Thr2991=) rs146424389 0.00116
NM_182961.4(SYNE1):c.6946A>G (p.Ile2316Val) rs116721144 0.00114
NM_182961.4(SYNE1):c.22068C>T (p.Thr7356=) rs35686213 0.00110
NM_182961.4(SYNE1):c.18114G>A (p.Ala6038=) rs149923357 0.00107
NM_182961.4(SYNE1):c.6339T>C (p.Thr2113=) rs141671123 0.00106
NM_182961.4(SYNE1):c.13101C>T (p.Ile4367=) rs140136749 0.00103
NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe) rs41301343 0.00100
NM_182961.4(SYNE1):c.4031G>A (p.Arg1344Gln) rs144566713 0.00100
NM_182961.4(SYNE1):c.7156A>G (p.Ile2386Val) rs147947903 0.00099
NM_182961.4(SYNE1):c.6826-6A>G rs183683592 0.00091
NM_182961.4(SYNE1):c.11127A>G (p.Glu3709=) rs149260051 0.00089
NM_182961.4(SYNE1):c.22554G>A (p.Gly7518=) rs148240825 0.00089
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys) rs119103248 0.00083
NM_182961.4(SYNE1):c.21486C>T (p.Ser7162=) rs139078338 0.00082
NM_182961.4(SYNE1):c.11430G>A (p.Thr3810=) rs137919524 0.00080
NM_182961.4(SYNE1):c.15907C>T (p.Arg5303Trp) rs149215868 0.00067
NM_182961.4(SYNE1):c.24555C>T (p.Ile8185=) rs201799566 0.00066
NM_182961.4(SYNE1):c.14769A>G (p.Glu4923=) rs141057568 0.00063
NM_182961.4(SYNE1):c.1038T>C (p.Asp346=) rs144105769 0.00056
NM_182961.4(SYNE1):c.15337G>A (p.Val5113Ile) rs139170018 0.00054
NM_182961.4(SYNE1):c.5259T>C (p.Ile1753=) rs147508177 0.00052
NM_182961.4(SYNE1):c.24827C>G (p.Ala8276Gly) rs142985368 0.00051
NM_182961.4(SYNE1):c.17542-7G>A rs199762799 0.00050
NM_182961.4(SYNE1):c.17640C>T (p.Arg5880=) rs144418713 0.00041
NM_182961.4(SYNE1):c.25751A>C (p.Asp8584Ala) rs41291047 0.00041
NM_182961.4(SYNE1):c.15657+5T>A rs199779021 0.00036
NM_182961.4(SYNE1):c.22137C>T (p.Asp7379=) rs148556501 0.00035
NM_182961.4(SYNE1):c.19635G>T (p.Arg6545Ser) rs147143947 0.00032
NM_182961.4(SYNE1):c.12225+4G>A rs770448083 0.00024
NM_182961.4(SYNE1):c.16295G>A (p.Arg5432Gln) rs200812806 0.00024
NM_182961.4(SYNE1):c.2569-8C>T rs376033376 0.00023
NM_182961.4(SYNE1):c.13554C>T (p.Arg4518=) rs115535983 0.00022
NM_182961.4(SYNE1):c.15863G>C (p.Gly5288Ala) rs201313856 0.00018
NM_182961.4(SYNE1):c.22923C>T (p.Ala7641=) rs2296253 0.00018
NM_001347702.2(SYNE1):c.1446A>G (p.Val482=) rs377088951 0.00016
NM_182961.4(SYNE1):c.25120-6A>G rs201898019 0.00015
NM_182961.4(SYNE1):c.4723C>T (p.Leu1575Phe) rs200424447 0.00015
NM_182961.4(SYNE1):c.12615G>A (p.Ser4205=) rs138650597 0.00014
NM_182961.4(SYNE1):c.19026C>T (p.Asp6342=) rs370053768 0.00014
NM_182961.4(SYNE1):c.20070G>C (p.Thr6690=) rs141263831 0.00013
NM_182961.4(SYNE1):c.20289A>G (p.Ser6763=) rs142327194 0.00011
NM_182961.4(SYNE1):c.21924G>A (p.Glu7308=) rs371017408 0.00010
NM_182961.4(SYNE1):c.20163C>T (p.Asn6721=) rs201221147 0.00009
NM_182961.4(SYNE1):c.6969G>A (p.Val2323=) rs140986546 0.00009
NM_182961.4(SYNE1):c.10935C>T (p.His3645=) rs201704617 0.00006
NM_182961.4(SYNE1):c.12667C>T (p.Arg4223Cys) rs145738035 0.00006
NM_182961.4(SYNE1):c.12798T>A (p.Ser4266=) rs373438870 0.00006
NM_182961.4(SYNE1):c.2893-5G>A rs370196519 0.00006
NM_182961.4(SYNE1):c.3436C>G (p.Gln1146Glu) rs760256766 0.00006
NM_182961.4(SYNE1):c.10257T>C (p.His3419=) rs147631683 0.00004
NM_182961.4(SYNE1):c.15451G>A (p.Val5151Met) rs199996504 0.00004
NM_182961.4(SYNE1):c.19188C>T (p.Asp6396=) rs369626489 0.00004
NM_182961.4(SYNE1):c.24780G>A (p.Ser8260=) rs766320378 0.00004
NM_182961.4(SYNE1):c.3099C>T (p.Ala1033=) rs201752079 0.00004
NM_182961.4(SYNE1):c.780C>T (p.Asp260=) rs376480815 0.00004
NM_182961.4(SYNE1):c.11247G>A (p.Thr3749=) rs138882800 0.00003
NM_182961.4(SYNE1):c.12930C>T (p.Asp4310=) rs760209358 0.00003
NM_182961.4(SYNE1):c.15414G>A (p.Ala5138=) rs746436040 0.00003
NM_182961.4(SYNE1):c.18363C>T (p.Ala6121=) rs758953542 0.00003
NM_182961.4(SYNE1):c.22035T>G (p.Thr7345=) rs750669148 0.00003
NM_182961.4(SYNE1):c.6151G>C (p.Ala2051Pro) rs376518010 0.00003
NM_182961.4(SYNE1):c.16553G>A (p.Arg5518Gln) rs150604289 0.00002
NM_182961.4(SYNE1):c.18441T>C (p.Asn6147=) rs558367406 0.00002
NM_182961.4(SYNE1):c.25629C>T (p.Gly8543=) rs201344762 0.00002
NM_182961.4(SYNE1):c.4299G>A (p.Thr1433=) rs528090478 0.00002
NM_182961.4(SYNE1):c.10444-6T>C rs376803162 0.00001
NM_182961.4(SYNE1):c.13710T>C (p.Asp4570=) rs563207771 0.00001
NM_182961.4(SYNE1):c.14079A>G (p.Gln4693=) rs778820710 0.00001
NM_182961.4(SYNE1):c.17326G>T (p.Ala5776Ser) rs774018511 0.00001
NM_182961.4(SYNE1):c.18513G>T (p.Arg6171Ser) rs764725032 0.00001
NM_182961.4(SYNE1):c.19815T>A (p.Gly6605=) rs776418227 0.00001
NM_182961.4(SYNE1):c.24600C>T (p.Phe8200=) rs370421580 0.00001
NM_182961.4(SYNE1):c.24633C>T (p.Ile8211=) rs201078523 0.00001
NM_182961.4(SYNE1):c.25056C>T (p.Thr8352=) rs200678102 0.00001
NM_182961.4(SYNE1):c.25656C>T (p.Cys8552=) rs747858299 0.00001
NM_182961.4(SYNE1):c.3027+57C>T rs766801762 0.00001
NM_182961.4(SYNE1):c.3735C>T (p.Leu1245=) rs758375991 0.00001
NM_182961.4(SYNE1):c.600A>T (p.Val200=) rs781563259 0.00001
NM_182961.4(SYNE1):c.7512T>C (p.Leu2504=) rs571107594 0.00001
NM_182961.4(SYNE1):c.7611G>T (p.Arg2537Ser) rs568309673 0.00001
NM_182961.4(SYNE1):c.9915A>G (p.Ser3305=) rs764114386 0.00001
NM_182961.4(SYNE1):c.10657C>T (p.Leu3553=)
NM_182961.4(SYNE1):c.12585G>A (p.Lys4195=) rs149536991
NM_182961.4(SYNE1):c.13195A>T (p.Met4399Leu)
NM_182961.4(SYNE1):c.13752T>C (p.Val4584=)
NM_182961.4(SYNE1):c.14106C>T (p.Thr4702=) rs146180064
NM_182961.4(SYNE1):c.14685C>T (p.Arg4895=)
NM_182961.4(SYNE1):c.15541C>T (p.Leu5181=) rs774649954
NM_182961.4(SYNE1):c.16470T>C (p.Asn5490=)
NM_182961.4(SYNE1):c.16476A>G (p.Gln5492=) rs141380170
NM_182961.4(SYNE1):c.18276C>T (p.Ala6092=) rs2153724828
NM_182961.4(SYNE1):c.18450G>T (p.Leu6150=)
NM_182961.4(SYNE1):c.21093A>G (p.Val7031=)
NM_182961.4(SYNE1):c.21951C>G (p.Ser7317=)
NM_182961.4(SYNE1):c.23791-6del rs757124573
NM_182961.4(SYNE1):c.23865C>T (p.His7955=)
NM_182961.4(SYNE1):c.3027+33C>T
NM_182961.4(SYNE1):c.3027+34del rs547705798
NM_182961.4(SYNE1):c.3027+91A>G
NM_182961.4(SYNE1):c.3495T>G (p.Arg1165=) rs2154248829
NM_182961.4(SYNE1):c.393A>C (p.Leu131=) rs139291592
NM_182961.4(SYNE1):c.4548T>C (p.Thr1516=) rs776593228
NM_182961.4(SYNE1):c.4889C>G (p.Ala1630Gly) rs566004273
NM_182961.4(SYNE1):c.5070C>G (p.Val1690=) rs146789107
NM_182961.4(SYNE1):c.5710T>C (p.Leu1904=)
NM_182961.4(SYNE1):c.627C>T (p.Ser209=)
NM_182961.4(SYNE1):c.6432C>T (p.Asn2144=)
NM_182961.4(SYNE1):c.6492C>T (p.Phe2164=)
NM_182961.4(SYNE1):c.7134G>A (p.Leu2378=)
NM_182961.4(SYNE1):c.7939C>T (p.Leu2647=) rs1554610128
NM_182961.4(SYNE1):c.8058C>G (p.Gly2686=)
NM_182961.4(SYNE1):c.822T>C (p.Tyr274=)
NM_182961.4(SYNE1):c.8361G>A (p.Thr2787=)
NM_182961.4(SYNE1):c.8733A>T (p.Thr2911=)
NM_182961.4(SYNE1):c.9715C>G (p.Gln3239Glu) rs149901087
NM_182961.4(SYNE1):c.9769C>T (p.Leu3257=)
NM_182961.4(SYNE1):c.9789G>A (p.Ala3263=)
NM_182961.4(SYNE1):c.9896C>A (p.Ala3299Glu)
NM_182961.4(SYNE1):c.9897G>A (p.Ala3299=) rs184006845
NM_182961.4(SYNE1):c.9981A>G (p.Leu3327=)

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