ClinVar Miner

List of variants in gene SYNE2 reported by Eurofins NTD LLC (GA)

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 218
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HGVS dbSNP gnomAD frequency
NM_182914.3(SYNE2):c.6481C>T (p.Leu2161=) rs10151127 0.80823
NM_182914.3(SYNE2):c.20062-119G>C rs1152588 0.66235
NM_182914.3(SYNE2):c.19333+5C>T rs1152590 0.50736
NM_182914.3(SYNE2):c.1721T>C (p.Ile574Thr) rs9944035 0.08879
NM_182914.3(SYNE2):c.12001T>C (p.Trp4001Arg) rs2792205 0.08782
NM_182914.3(SYNE2):c.12002G>A (p.Trp4001Ter) rs2781377 0.08740
NM_182914.3(SYNE2):c.7690A>G (p.Ile2564Val) rs11628107 0.02936
NM_182914.3(SYNE2):c.12840+8T>C rs145218296 0.02317
NM_182914.3(SYNE2):c.17561T>C (p.Leu5854Pro) rs117070973 0.00528
NM_182914.3(SYNE2):c.12378C>T (p.Ser4126=) rs36007735 0.00524
NM_182914.3(SYNE2):c.7162G>A (p.Glu2388Lys) rs200842904 0.00462
NM_182914.3(SYNE2):c.6321C>T (p.Ser2107=) rs143410137 0.00434
NM_182914.3(SYNE2):c.18632C>T (p.Thr6211Met) rs36215895 0.00411
NM_182914.3(SYNE2):c.20011G>A (p.Ala6671Thr) rs34820571 0.00341
NM_182914.3(SYNE2):c.6714+3G>A rs142902034 0.00337
NM_182914.3(SYNE2):c.20158C>T (p.Arg6720Trp) rs35700578 0.00335
NM_182914.3(SYNE2):c.11379T>C (p.Leu3793=) rs149391344 0.00319
NM_182914.3(SYNE2):c.20117G>A (p.Arg6706Gln) rs35831865 0.00309
NM_182914.3(SYNE2):c.15781G>A (p.Val5261Ile) rs144605670 0.00267
NM_182914.3(SYNE2):c.12560A>T (p.Asn4187Ile) rs34480732 0.00262
NM_182914.3(SYNE2):c.20410G>A (p.Asp6804Asn) rs150644129 0.00259
NM_182914.3(SYNE2):c.12984A>G (p.Lys4328=) rs151314114 0.00255
NM_182914.3(SYNE2):c.2560C>G (p.Gln854Glu) rs34449017 0.00250
NM_182914.3(SYNE2):c.10835A>G (p.Gln3612Arg) rs78110192 0.00249
NM_182914.3(SYNE2):c.19415C>T (p.Ser6472Leu) rs150955173 0.00242
NM_182914.3(SYNE2):c.6880-5C>T rs187173455 0.00235
NM_182914.3(SYNE2):c.16743G>A (p.Thr5581=) rs138769395 0.00232
NM_182914.3(SYNE2):c.20382+9A>G rs116394628 0.00230
NM_182914.3(SYNE2):c.16095-10G>A rs139126909 0.00225
NM_182914.3(SYNE2):c.5395T>C (p.Leu1799=) rs186427714 0.00207
NM_182914.3(SYNE2):c.18039-5T>A rs189611387 0.00199
NM_182914.3(SYNE2):c.19964A>T (p.Gln6655Leu) rs149978500 0.00193
NM_182914.3(SYNE2):c.20197G>A (p.Glu6733Lys) rs150172232 0.00181
NM_182914.3(SYNE2):c.4286T>C (p.Leu1429Pro) rs150573158 0.00180
NM_182914.3(SYNE2):c.430C>G (p.Leu144Val) rs142000273 0.00180
NM_182914.3(SYNE2):c.8041G>A (p.Val2681Ile) rs150946074 0.00178
NM_182914.3(SYNE2):c.9230C>T (p.Pro3077Leu) rs200742016 0.00172
NM_182914.3(SYNE2):c.7898A>G (p.Asn2633Ser) rs190582637 0.00157
NM_182914.3(SYNE2):c.15928T>C (p.Leu5310=) rs74975380 0.00139
NM_182914.3(SYNE2):c.19135C>T (p.Arg6379Cys) rs141741640 0.00138
NM_182914.3(SYNE2):c.11313G>C (p.Gln3771His) rs144596211 0.00133
NM_182914.3(SYNE2):c.15445C>T (p.Arg5149Cys) rs143088941 0.00127
NM_182914.3(SYNE2):c.19248C>G (p.Pro6416=) rs150363140 0.00116
NM_182914.3(SYNE2):c.7163A>G (p.Glu2388Gly) rs45590135 0.00116
NM_182914.3(SYNE2):c.12108+10T>C rs184130759 0.00106
NM_182914.3(SYNE2):c.3235A>G (p.Thr1079Ala) rs192128801 0.00103
NM_182914.3(SYNE2):c.15006C>T (p.Ser5002=) rs143686889 0.00101
NM_182914.3(SYNE2):c.11479G>C (p.Val3827Leu) rs138514054 0.00099
NM_182914.3(SYNE2):c.16195G>A (p.Ala5399Thr) rs140265039 0.00096
NM_182914.3(SYNE2):c.1873C>T (p.His625Tyr) rs192061494 0.00096
NM_182914.3(SYNE2):c.9347A>G (p.Lys3116Arg) rs138689053 0.00094
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.7124T>C (p.Leu2375Pro) rs111902869 0.00091
NM_182914.3(SYNE2):c.13850C>T (p.Thr4617Ile) rs148582250 0.00086
NM_182914.3(SYNE2):c.14792A>G (p.Lys4931Arg) rs147640636 0.00086
NM_182914.3(SYNE2):c.15248A>G (p.Asp5083Gly) rs149617373 0.00086
NM_182914.3(SYNE2):c.12673C>T (p.Pro4225Ser) rs149296737 0.00082
NM_182914.3(SYNE2):c.16088A>G (p.His5363Arg) rs150677837 0.00065
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.10392C>T (p.Cys3464=) rs373646325 0.00055
NM_182914.3(SYNE2):c.15848A>G (p.Asp5283Gly) rs138797058 0.00054
NM_182914.3(SYNE2):c.14844-8C>G rs375500620 0.00051
NM_182914.3(SYNE2):c.16591C>A (p.Pro5531Thr) rs145036293 0.00051
NM_182914.3(SYNE2):c.3773A>G (p.Tyr1258Cys) rs370541277 0.00051
NM_182914.3(SYNE2):c.15021C>T (p.Ala5007=) rs148113884 0.00046
NM_182914.3(SYNE2):c.4994C>T (p.Ala1665Val) rs200143024 0.00043
NM_182914.3(SYNE2):c.7976G>A (p.Arg2659Gln) rs199561218 0.00043
NM_182914.3(SYNE2):c.1154A>G (p.Asn385Ser) rs201176149 0.00042
NM_182914.3(SYNE2):c.14528T>A (p.Phe4843Tyr) rs141488398 0.00042
NM_182914.3(SYNE2):c.18723+8C>T rs200853043 0.00041
NM_182914.3(SYNE2):c.15857A>G (p.Tyr5286Cys) rs149354607 0.00036
NM_182914.3(SYNE2):c.169C>T (p.Leu57=) rs370692798 0.00036
NM_182914.3(SYNE2):c.4910A>G (p.Tyr1637Cys) rs143578863 0.00031
NM_182914.3(SYNE2):c.12043T>C (p.Tyr4015His) rs75665958 0.00029
NM_182914.3(SYNE2):c.7128A>G (p.Pro2376=) rs117423703 0.00029
NM_182914.3(SYNE2):c.18603G>A (p.Arg6201=) rs141051652 0.00026
NM_182914.3(SYNE2):c.6714+6G>T rs191541575 0.00026
NM_182914.3(SYNE2):c.990+10A>G rs145924910 0.00026
NM_182914.3(SYNE2):c.11023-5C>G rs112833938 0.00025
NM_182914.3(SYNE2):c.16178C>T (p.Ala5393Val) rs147173048 0.00025
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.16894A>G (p.Lys5632Glu) rs375876618 0.00021
NM_182914.3(SYNE2):c.19823A>T (p.Asp6608Val) rs372546949 0.00021
NM_182914.3(SYNE2):c.12738C>T (p.Ala4246=) rs143927906 0.00020
NM_182914.3(SYNE2):c.13918-6T>C rs187859624 0.00020
NM_182914.3(SYNE2):c.20509G>A (p.Glu6837Lys) rs146398606 0.00019
NM_182914.3(SYNE2):c.9315A>C (p.Leu3105Phe) rs201466326 0.00019
NM_182914.3(SYNE2):c.13377C>G (p.Leu4459=) rs141379692 0.00018
NM_182914.3(SYNE2):c.16405C>A (p.Pro5469Thr) rs148492034 0.00018
NM_182914.3(SYNE2):c.14139+5G>A rs374778697 0.00017
NM_182914.3(SYNE2):c.19417G>C (p.Asp6473His) rs140940287 0.00017
NM_182914.3(SYNE2):c.15165A>G (p.Gln5055=) rs145021738 0.00016
NM_182914.3(SYNE2):c.16640A>G (p.Asp5547Gly) rs150415189 0.00015
NM_182914.3(SYNE2):c.8005A>G (p.Thr2669Ala) rs374946613 0.00015
NM_182914.3(SYNE2):c.12302G>A (p.Arg4101Gln) rs372624638 0.00014
NM_182914.3(SYNE2):c.2013G>A (p.Leu671=) rs371320284 0.00014
NM_182914.3(SYNE2):c.8911C>G (p.Gln2971Glu) rs200909650 0.00014
NM_182914.3(SYNE2):c.15234A>G (p.Gln5078=) rs139340468 0.00013
NM_182914.3(SYNE2):c.17539G>A (p.Glu5847Lys) rs201427580 0.00012
NM_182914.3(SYNE2):c.2190A>G (p.Thr730=) rs374751877 0.00012
NM_182914.3(SYNE2):c.9745-9A>G rs778028287 0.00010
NM_182914.3(SYNE2):c.10331C>T (p.Ser3444Leu) rs372338837 0.00009
NM_182914.3(SYNE2):c.12656C>T (p.Ala4219Val) rs767658277 0.00009
NM_182914.3(SYNE2):c.14969A>G (p.Asn4990Ser) rs577518631 0.00009
NM_182914.3(SYNE2):c.19323C>T (p.Ser6441=) rs186839881 0.00009
NM_182914.3(SYNE2):c.3830G>A (p.Arg1277His) rs367549881 0.00009
NM_182914.3(SYNE2):c.907A>G (p.Met303Val) rs377535370 0.00009
NM_182914.3(SYNE2):c.18264C>T (p.Asp6088=) rs182985921 0.00008
NM_182914.3(SYNE2):c.3889A>G (p.Met1297Val) rs368642506 0.00008
NM_182914.3(SYNE2):c.14486G>A (p.Cys4829Tyr) rs200997641 0.00007
NM_182914.3(SYNE2):c.19636G>A (p.Gly6546Ser) rs199577239 0.00007
NM_182914.3(SYNE2):c.3326G>A (p.Ser1109Asn) rs150464227 0.00007
NM_182914.3(SYNE2):c.14088G>A (p.Gly4696=) rs200893674 0.00006
NM_182914.3(SYNE2):c.15689A>G (p.Lys5230Arg) rs146573874 0.00006
NM_182914.3(SYNE2):c.19501C>T (p.Pro6501Ser) rs200937358 0.00006
NM_182914.3(SYNE2):c.20140G>A (p.Asp6714Asn) rs751000273 0.00006
NM_182914.3(SYNE2):c.4785C>A (p.Asn1595Lys) rs199704293 0.00006
NM_182914.3(SYNE2):c.7300C>T (p.Arg2434Trp) rs570233690 0.00006
NM_182914.3(SYNE2):c.18265G>A (p.Val6089Ile) rs759251568 0.00005
NM_182914.3(SYNE2):c.3532T>C (p.Leu1178=) rs749552415 0.00005
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.7462G>A (p.Ala2488Thr) rs368547895 0.00005
NM_182914.3(SYNE2):c.12189C>T (p.Thr4063=) rs372251838 0.00004
NM_182914.3(SYNE2):c.18641G>A (p.Arg6214Lys) rs200152990 0.00004
NM_182914.3(SYNE2):c.20542C>T (p.Arg6848Cys) rs201472187 0.00004
NM_182914.3(SYNE2):c.2890A>G (p.Lys964Glu) rs886042494 0.00004
NM_182914.3(SYNE2):c.3408G>T (p.Arg1136Ser) rs762347655 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.10424G>A (p.Ser3475Asn) rs769912217 0.00003
NM_182914.3(SYNE2):c.13158+5T>G rs201196297 0.00003
NM_182914.3(SYNE2):c.15792G>C (p.Gln5264His) rs368363575 0.00003
NM_182914.3(SYNE2):c.16480-10C>G rs768388576 0.00003
NM_182914.3(SYNE2):c.16961A>G (p.Gln5654Arg) rs886042450 0.00003
NM_182914.3(SYNE2):c.18315G>A (p.Ser6105=) rs202084149 0.00003
NM_182914.3(SYNE2):c.18541-7G>A rs368396657 0.00003
NM_182914.3(SYNE2):c.20203G>A (p.Glu6735Lys) rs138789938 0.00003
NM_182914.3(SYNE2):c.8474G>A (p.Arg2825Lys) rs748757670 0.00003
NM_182914.3(SYNE2):c.9252C>T (p.Ala3084=) rs200061977 0.00003
NM_182914.3(SYNE2):c.14053G>A (p.Ala4685Thr) rs779457100 0.00002
NM_182914.3(SYNE2):c.14207C>T (p.Thr4736Ile) rs141148067 0.00002
NM_182914.3(SYNE2):c.17823A>G (p.Leu5941=) rs766073729 0.00002
NM_182914.3(SYNE2):c.18163G>A (p.Asp6055Asn) rs543875232 0.00002
NM_182914.3(SYNE2):c.3645A>C (p.Glu1215Asp) rs376249456 0.00002
NM_182914.3(SYNE2):c.4024G>A (p.Val1342Ile) rs747274988 0.00002
NM_182914.3(SYNE2):c.4846T>C (p.Phe1616Leu) rs764521226 0.00002
NM_182914.3(SYNE2):c.6164A>G (p.His2055Arg) rs368032214 0.00002
NM_182914.3(SYNE2):c.11539G>A (p.Asp3847Asn) rs376684112 0.00001
NM_182914.3(SYNE2):c.12567G>A (p.Glu4189=) rs191320481 0.00001
NM_182914.3(SYNE2):c.13473A>G (p.Arg4491=) rs886042596 0.00001
NM_182914.3(SYNE2):c.14465T>A (p.Leu4822Gln) rs142121093 0.00001
NM_182914.3(SYNE2):c.15810C>T (p.Thr5270=) rs182449286 0.00001
NM_182914.3(SYNE2):c.15859G>A (p.Asp5287Asn) rs188953744 0.00001
NM_182914.3(SYNE2):c.16717C>T (p.Arg5573Trp) rs138323662 0.00001
NM_182914.3(SYNE2):c.16730G>A (p.Arg5577Gln) rs143231145 0.00001
NM_182914.3(SYNE2):c.17778T>G (p.Asn5926Lys) rs886043367 0.00001
NM_182914.3(SYNE2):c.18393C>T (p.Ile6131=) rs370317926 0.00001
NM_182914.3(SYNE2):c.19402+8C>T rs794727012 0.00001
NM_182914.3(SYNE2):c.3246A>C (p.Ala1082=) rs776546793 0.00001
NM_182914.3(SYNE2):c.3921A>G (p.Gln1307=) rs771152985 0.00001
NM_182914.3(SYNE2):c.4133A>G (p.Asp1378Gly) rs886042592 0.00001
NM_182914.3(SYNE2):c.5287A>T (p.Met1763Leu) rs886042788 0.00001
NM_182914.3(SYNE2):c.5389A>G (p.Met1797Val) rs199968665 0.00001
NM_182914.3(SYNE2):c.5608A>C (p.Ser1870Arg) rs368227332 0.00001
NM_182914.3(SYNE2):c.5710C>T (p.His1904Tyr) rs762428121 0.00001
NM_182914.3(SYNE2):c.5960+6G>A rs886042273 0.00001
NM_182914.3(SYNE2):c.7297G>A (p.Glu2433Lys) rs376116911 0.00001
NM_182914.3(SYNE2):c.8417A>G (p.Asn2806Ser) rs765407182 0.00001
NM_182914.3(SYNE2):c.9284A>G (p.Lys3095Arg) rs771325522 0.00001
NM_182914.3(SYNE2):c.9652G>T (p.Glu3218Ter) rs886042276 0.00001
NM_182914.3(SYNE2):c.9830C>G (p.Ala3277Gly) rs758226884 0.00001
NM_182914.3(SYNE2):c.9943G>A (p.Glu3315Lys) rs372982837 0.00001
NM_182914.3(SYNE2):c.9974C>T (p.Ala3325Val) rs377173620 0.00001
NM_182914.3(SYNE2):c.11146G>A (p.Ala3716Thr) rs794727765
NM_182914.3(SYNE2):c.1129-4dup rs34440267
NM_182914.3(SYNE2):c.1129-6_1129-4dup rs34440267
NM_182914.3(SYNE2):c.1129-7_1129-4del rs34440267
NM_182914.3(SYNE2):c.11457A>G (p.Thr3819=) rs886043517
NM_182914.3(SYNE2):c.11729A>G (p.Lys3910Arg) rs142616444
NM_182914.3(SYNE2):c.1175T>C (p.Leu392Pro) rs886042387
NM_182914.3(SYNE2):c.11944A>G (p.Asn3982Asp) rs10137972
NM_182914.3(SYNE2):c.12006T>G (p.Asp4002Glu) rs886043596
NM_182914.3(SYNE2):c.12109-10_12109-7del rs755277543
NM_182914.3(SYNE2):c.12239G>A (p.Arg4080Lys) rs886042419
NM_182914.3(SYNE2):c.13461G>C (p.Met4487Ile) rs201681637
NM_182914.3(SYNE2):c.13747A>C (p.Ser4583Arg) rs886042291
NM_182914.3(SYNE2):c.13926A>G (p.Ile4642Met) rs794727889
NM_182914.3(SYNE2):c.14257A>G (p.Ile4753Val) rs886042776
NM_182914.3(SYNE2):c.142C>T (p.His48Tyr) rs794727659
NM_182914.3(SYNE2):c.14723C>A (p.Ser4908Tyr) rs886042673
NM_182914.3(SYNE2):c.16229A>G (p.Gln5410Arg) rs886042342
NM_182914.3(SYNE2):c.17554A>C (p.Lys5852Gln) rs886043099
NM_182914.3(SYNE2):c.17631_17635dup (p.Val5879fs) rs796065339
NM_182914.3(SYNE2):c.18168T>C (p.Asp6056=) rs886042369
NM_182914.3(SYNE2):c.18387G>A (p.Met6129Ile) rs886042451
NM_182914.3(SYNE2):c.19549CTA[1] (p.Leu6519del) rs886043261
NM_182914.3(SYNE2):c.19948G>A (p.Glu6650Lys) rs755027899
NM_182914.3(SYNE2):c.20191-10_20191-9del rs770925546
NM_182914.3(SYNE2):c.20339G>A (p.Arg6780Gln) rs202240664
NM_182914.3(SYNE2):c.204G>A (p.Leu68=) rs886042247
NM_182914.3(SYNE2):c.20516+10C>T rs886042642
NM_182914.3(SYNE2):c.2070A>G (p.Leu690=) rs79037871
NM_182914.3(SYNE2):c.2271G>A (p.Leu757=) rs886042558
NM_182914.3(SYNE2):c.2647-4_2647-3dup rs397726340
NM_182914.3(SYNE2):c.2665A>G (p.Asn889Asp) rs370800852
NM_182914.3(SYNE2):c.3039A>G (p.Gln1013=) rs765896679
NM_182914.3(SYNE2):c.3474T>C (p.Asp1158=) rs886042177
NM_182914.3(SYNE2):c.3730A>G (p.Met1244Val) rs886042631
NM_182914.3(SYNE2):c.3885C>G (p.His1295Gln) rs570341792
NM_182914.3(SYNE2):c.3927A>G (p.Glu1309=) rs779227432
NM_182914.3(SYNE2):c.4168G>T (p.Asp1390Tyr) rs748204670
NM_182914.3(SYNE2):c.6599A>G (p.Lys2200Arg) rs551801857
NM_182914.3(SYNE2):c.9926A>T (p.His3309Leu) rs8010699

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