ClinVar Miner

Variants in gene SYNE2 with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 113
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HGVS dbSNP gnomAD frequency
NM_182914.3(SYNE2):c.19964A>T (p.Gln6655Leu) rs149978500 0.00193
NM_182914.3(SYNE2):c.9230C>T (p.Pro3077Leu) rs200742016 0.00172
NM_182914.3(SYNE2):c.15928T>C (p.Leu5310=) rs74975380 0.00139
NM_182914.3(SYNE2):c.1447G>A (p.Glu483Lys) rs200611311 0.00131
NM_182914.3(SYNE2):c.15445C>T (p.Arg5149Cys) rs143088941 0.00127
NM_182914.3(SYNE2):c.18835G>A (p.Ala6279Thr) rs145871645 0.00121
NM_182914.3(SYNE2):c.7643+6T>C rs144143344 0.00111
NM_182914.3(SYNE2):c.3235A>G (p.Thr1079Ala) rs192128801 0.00103
NM_182914.3(SYNE2):c.7483G>A (p.Gly2495Arg) rs201036334 0.00103
NM_182914.3(SYNE2):c.11479G>C (p.Val3827Leu) rs138514054 0.00099
NM_182914.3(SYNE2):c.16718G>A (p.Arg5573Gln) rs149227847 0.00091
NM_182914.3(SYNE2):c.20161G>A (p.Ala6721Thr) rs140897155 0.00091
NM_182914.3(SYNE2):c.12673C>T (p.Pro4225Ser) rs149296737 0.00082
NM_182914.3(SYNE2):c.13424T>C (p.Val4475Ala) rs146977539 0.00076
NM_182914.3(SYNE2):c.12293C>A (p.Ala4098Asp) rs142169651 0.00070
NM_182914.3(SYNE2):c.3506G>A (p.Arg1169His) rs200437377 0.00064
NM_182914.3(SYNE2):c.4178G>A (p.Arg1393Gln) rs117647282 0.00064
NM_182914.3(SYNE2):c.10494A>G (p.Thr3498=) rs201000414 0.00058
NM_182914.3(SYNE2):c.4912T>C (p.Tyr1638His) rs146801942 0.00052
NM_182914.3(SYNE2):c.16591C>A (p.Pro5531Thr) rs145036293 0.00051
NM_182914.3(SYNE2):c.8761A>C (p.Lys2921Gln) rs182683822 0.00051
NM_182914.3(SYNE2):c.1154A>G (p.Asn385Ser) rs201176149 0.00042
NM_182914.3(SYNE2):c.2402A>G (p.Gln801Arg) rs200848069 0.00041
NM_182914.3(SYNE2):c.6511C>G (p.Leu2171Val) rs199743242 0.00038
NM_182914.3(SYNE2):c.2270T>C (p.Leu757Ser) rs200319405 0.00037
NM_182914.3(SYNE2):c.13156C>G (p.Gln4386Glu) rs140277551 0.00036
NM_182914.3(SYNE2):c.15857A>G (p.Tyr5286Cys) rs149354607 0.00036
NM_182914.3(SYNE2):c.4910A>G (p.Tyr1637Cys) rs143578863 0.00031
NM_182914.3(SYNE2):c.15446G>A (p.Arg5149His) rs142206385 0.00030
NM_182914.3(SYNE2):c.18232G>A (p.Ala6078Thr) rs149128439 0.00029
NM_182914.3(SYNE2):c.13792G>A (p.Glu4598Lys) rs144702281 0.00023
NM_182914.3(SYNE2):c.12903C>T (p.Gly4301=) rs148708516 0.00021
NM_182914.3(SYNE2):c.17723G>A (p.Arg5908His) rs538344879 0.00020
NM_182914.3(SYNE2):c.2477A>G (p.Asn826Ser) rs372150492 0.00019
NM_182914.3(SYNE2):c.9315A>C (p.Leu3105Phe) rs201466326 0.00019
NM_182914.3(SYNE2):c.16405C>A (p.Pro5469Thr) rs148492034 0.00018
NM_182914.3(SYNE2):c.19034G>A (p.Arg6345Gln) rs141882853 0.00018
NM_182914.3(SYNE2):c.12655G>A (p.Ala4219Thr) rs138644399 0.00017
NM_182914.3(SYNE2):c.14139+5G>A rs374778697 0.00017
NM_182914.3(SYNE2):c.19136G>A (p.Arg6379His) rs150629598 0.00017
NM_182914.3(SYNE2):c.16856A>G (p.Asp5619Gly) rs139187222 0.00015
NM_182914.3(SYNE2):c.8005A>G (p.Thr2669Ala) rs374946613 0.00015
NM_182914.3(SYNE2):c.14574A>G (p.Ile4858Met) rs568071525 0.00014
NM_182914.3(SYNE2):c.7310A>G (p.Asn2437Ser) rs373880647 0.00014
NM_182914.3(SYNE2):c.8911C>G (p.Gln2971Glu) rs200909650 0.00014
NM_182914.3(SYNE2):c.15031A>G (p.Ile5011Val) rs201269146 0.00011
NM_182914.3(SYNE2):c.15413C>T (p.Thr5138Met) rs145018323 0.00011
NM_182914.3(SYNE2):c.5689G>A (p.Val1897Ile) rs773841153 0.00011
NM_182914.3(SYNE2):c.12381+6G>A rs781486571 0.00010
NM_182914.3(SYNE2):c.10760C>T (p.Ser3587Phe) rs748430621 0.00009
NM_182914.3(SYNE2):c.18550C>T (p.Arg6184Trp) rs761998546 0.00009
NM_182914.3(SYNE2):c.19323C>T (p.Ser6441=) rs186839881 0.00009
NM_182914.3(SYNE2):c.907A>G (p.Met303Val) rs377535370 0.00009
NM_182914.3(SYNE2):c.16127A>G (p.Gln5376Arg) rs753646712 0.00008
NM_182914.3(SYNE2):c.16912G>A (p.Glu5638Lys) rs751734028 0.00008
NM_182914.3(SYNE2):c.3664C>T (p.Arg1222Trp) rs773994020 0.00008
NM_182914.3(SYNE2):c.9404A>G (p.Lys3135Arg) rs376121197 0.00008
NM_182914.3(SYNE2):c.14486G>A (p.Cys4829Tyr) rs200997641 0.00007
NM_182914.3(SYNE2):c.20702C>A (p.Thr6901Asn) rs760936547 0.00007
NM_182914.3(SYNE2):c.10495A>C (p.Lys3499Gln) rs752900825 0.00006
NM_182914.3(SYNE2):c.12614C>T (p.Thr4205Ile) rs376207235 0.00006
NM_182914.3(SYNE2):c.15689A>G (p.Lys5230Arg) rs146573874 0.00006
NM_182914.3(SYNE2):c.19142G>A (p.Arg6381Gln) rs140857065 0.00006
NM_182914.3(SYNE2):c.19501C>T (p.Pro6501Ser) rs200937358 0.00006
NM_182914.3(SYNE2):c.303A>G (p.Leu101=) rs371277498 0.00006
NM_182914.3(SYNE2):c.5893A>G (p.Lys1965Glu) rs80046702 0.00006
NM_182914.3(SYNE2):c.8691G>C (p.Glu2897Asp) rs758754933 0.00006
NM_182914.3(SYNE2):c.3885C>T (p.His1295=) rs570341792 0.00005
NM_182914.3(SYNE2):c.6685C>G (p.Leu2229Val) rs375543783 0.00005
NM_182914.3(SYNE2):c.12660A>G (p.Gln4220=) rs745820221 0.00004
NM_182914.3(SYNE2):c.13917+10C>T rs760288753 0.00004
NM_182914.3(SYNE2):c.14071A>G (p.Lys4691Glu) rs143798878 0.00004
NM_182914.3(SYNE2):c.17141G>A (p.Arg5714His) rs200137127 0.00004
NM_182914.3(SYNE2):c.20542C>T (p.Arg6848Cys) rs201472187 0.00004
NM_182914.3(SYNE2):c.5575A>G (p.Lys1859Glu) rs201327410 0.00004
NM_182914.3(SYNE2):c.9430C>T (p.Leu3144Phe) rs886044254 0.00004
NM_182914.3(SYNE2):c.10947G>A (p.Met3649Ile) rs772140514 0.00003
NM_182914.3(SYNE2):c.14980T>C (p.Phe4994Leu) rs747348017 0.00003
NM_182914.3(SYNE2):c.17039G>A (p.Arg5680Gln) rs554186246 0.00003
NM_182914.3(SYNE2):c.18963G>T (p.Leu6321=) rs757232346 0.00003
NM_182914.3(SYNE2):c.6880-4G>A rs776756586 0.00003
NM_182914.3(SYNE2):c.10776A>G (p.Ile3592Met) rs373340663 0.00002
NM_182914.3(SYNE2):c.12942G>A (p.Ala4314=) rs762957203 0.00002
NM_182914.3(SYNE2):c.14791A>G (p.Lys4931Glu) rs145031656 0.00002
NM_182914.3(SYNE2):c.15865G>A (p.Val5289Met) rs181059522 0.00002
NM_182914.3(SYNE2):c.16760+6A>G rs756707482 0.00002
NM_182914.3(SYNE2):c.17691A>G (p.Gln5897=) rs971473774 0.00002
NM_182914.3(SYNE2):c.18660C>T (p.His6220=) rs757875136 0.00002
NM_182914.3(SYNE2):c.19807G>A (p.Ala6603Thr) rs143077670 0.00002
NM_182914.3(SYNE2):c.4846T>C (p.Phe1616Leu) rs764521226 0.00002
NM_182914.3(SYNE2):c.6746G>A (p.Arg2249Gln) rs764036360 0.00002
NM_182914.3(SYNE2):c.8386C>T (p.Leu2796Phe) rs200570324 0.00002
NM_182914.3(SYNE2):c.8991G>A (p.Gln2997=) rs773209564 0.00002
NM_182914.3(SYNE2):c.9778C>T (p.Arg3260Cys) rs570116954 0.00002
NM_182914.3(SYNE2):c.16378G>A (p.Ala5460Thr) rs775169295 0.00001
NM_182914.3(SYNE2):c.16605+10A>G rs761193543 0.00001
NM_182914.3(SYNE2):c.16854G>A (p.Val5618=) rs1490325276 0.00001
NM_182914.3(SYNE2):c.17832G>A (p.Ala5944=) rs886050596 0.00001
NM_182914.3(SYNE2):c.18015T>C (p.His6005=) rs1323946751 0.00001
NM_182914.3(SYNE2):c.18393C>T (p.Ile6131=) rs370317926 0.00001
NM_182914.3(SYNE2):c.3102C>T (p.Ser1034=) rs886050580 0.00001
NM_182914.3(SYNE2):c.5835A>G (p.Leu1945=) rs766666230 0.00001
NM_182914.3(SYNE2):c.9501G>T (p.Gln3167His) rs1026697162 0.00001
NM_182914.3(SYNE2):c.12109-10_12109-7del rs755277543
NM_182914.3(SYNE2):c.16328AAG[1] (p.Glu5444del) rs751691446
NM_182914.3(SYNE2):c.17784G>A (p.Glu5928=) rs572217007
NM_182914.3(SYNE2):c.18190G>A (p.Ala6064Thr) rs182079744
NM_182914.3(SYNE2):c.19275G>T (p.Val6425=) rs772092387
NM_182914.3(SYNE2):c.19441G>C (p.Asp6481His) rs202052357
NM_182914.3(SYNE2):c.20033G>C (p.Gly6678Ala) rs140676416
NM_182914.3(SYNE2):c.2498C>G (p.Ala833Gly) rs200503488
NM_182914.3(SYNE2):c.2665A>G (p.Asn889Asp) rs370800852
NM_182914.3(SYNE2):c.4398-11T>A rs2096801796

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