ClinVar Miner

List of variants in gene SYNE1 reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 298
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HGVS dbSNP gnomAD frequency
NM_182961.4(SYNE1):c.7433C>G (p.Ser2478Cys) rs149030452 0.00156
NM_182961.4(SYNE1):c.20288C>T (p.Ser6763Leu) rs115534729 0.00137
NM_182961.4(SYNE1):c.9655G>A (p.Val3219Ile) rs140927945 0.00132
NM_182961.4(SYNE1):c.14221C>T (p.Arg4741Cys) rs150062167 0.00128
NM_182961.4(SYNE1):c.21470G>A (p.Arg7157His) rs34963077 0.00106
NM_182961.4(SYNE1):c.18204G>C (p.Leu6068Phe) rs138039375 0.00102
NM_182961.4(SYNE1):c.14452T>A (p.Tyr4818Asn) rs142422990 0.00101
NM_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro) rs147998933 0.00101
NM_182961.4(SYNE1):c.9530A>G (p.Asp3177Gly) rs149005052 0.00086
NM_182961.4(SYNE1):c.24881A>G (p.Asp8294Gly) rs138407813 0.00082
NM_182961.4(SYNE1):c.21995A>C (p.His7332Pro) rs151247098 0.00080
NM_182961.4(SYNE1):c.8015T>C (p.Leu2672Pro) rs147870520 0.00080
NM_182961.4(SYNE1):c.24985A>G (p.Ser8329Gly) rs142690727 0.00068
NM_182961.4(SYNE1):c.22458T>G (p.Asn7486Lys) rs139466191 0.00061
NM_182961.4(SYNE1):c.1391A>G (p.His464Arg) rs141397112 0.00058
NM_182961.4(SYNE1):c.3074A>T (p.Asp1025Val) rs143093185 0.00058
NM_182961.4(SYNE1):c.5807A>G (p.His1936Arg) rs112744561 0.00058
NM_182961.4(SYNE1):c.3536A>C (p.Glu1179Ala) rs117461489 0.00057
NM_182961.4(SYNE1):c.10396C>G (p.Leu3466Val) rs150637898 0.00055
NM_182961.4(SYNE1):c.15337G>A (p.Val5113Ile) rs139170018 0.00054
NM_182961.4(SYNE1):c.9394A>G (p.Ser3132Gly) rs138481762 0.00051
NM_182961.4(SYNE1):c.5360A>G (p.Glu1787Gly) rs201366911 0.00050
NM_182961.4(SYNE1):c.21002A>G (p.Lys7001Arg) rs145075161 0.00046
NM_182961.4(SYNE1):c.24488T>C (p.Ile8163Thr) rs139643725 0.00045
NM_182961.4(SYNE1):c.21149G>A (p.Arg7050Gln) rs143639400 0.00043
NM_182961.4(SYNE1):c.23260G>A (p.Val7754Ile) rs150550013 0.00042
NM_182961.4(SYNE1):c.25751A>C (p.Asp8584Ala) rs41291047 0.00041
NM_182961.4(SYNE1):c.2728A>G (p.Ser910Gly) rs141214076 0.00041
NM_182961.4(SYNE1):c.14501G>A (p.Arg4834Gln) rs141883764 0.00040
NM_182961.4(SYNE1):c.181G>A (p.Val61Ile) rs151156420 0.00039
NM_182961.4(SYNE1):c.12391G>T (p.Gly4131Cys) rs139139296 0.00038
NM_182961.4(SYNE1):c.25403G>A (p.Arg8468His) rs143049227 0.00035
NM_182961.4(SYNE1):c.11218A>G (p.Thr3740Ala) rs144797744 0.00034
NM_182961.4(SYNE1):c.12970C>T (p.Arg4324Cys) rs142258643 0.00034
NM_182961.4(SYNE1):c.4732C>T (p.Pro1578Ser) rs199769508 0.00034
NM_182961.4(SYNE1):c.9091A>G (p.Arg3031Gly) rs144643941 0.00031
NM_182961.4(SYNE1):c.11343C>T (p.Gly3781=) rs150121030 0.00030
NM_182961.4(SYNE1):c.21782G>A (p.Arg7261Gln) rs61742716 0.00030
NM_182961.4(SYNE1):c.6920C>T (p.Thr2307Ile) rs141049001 0.00030
NM_182961.4(SYNE1):c.19730G>A (p.Arg6577Gln) rs150387338 0.00029
NM_182961.4(SYNE1):c.7435A>G (p.Lys2479Glu) rs188146577 0.00027
NM_182961.4(SYNE1):c.16295G>A (p.Arg5432Gln) rs200812806 0.00024
NM_182961.4(SYNE1):c.18091G>A (p.Glu6031Lys) rs142229551 0.00024
NM_182961.4(SYNE1):c.26044G>C (p.Gly8682Arg) rs201664645 0.00024
NM_182961.4(SYNE1):c.21029T>A (p.Val7010Glu) rs141275966 0.00023
NM_182961.4(SYNE1):c.6428A>G (p.Asp2143Gly) rs189734757 0.00022
NM_182961.4(SYNE1):c.15202A>G (p.Lys5068Glu) rs139805184 0.00021
NM_182961.4(SYNE1):c.18662C>T (p.Thr6221Ile) rs150335599 0.00021
NM_182961.4(SYNE1):c.8311G>A (p.Val2771Ile) rs374862218 0.00021
NM_182961.4(SYNE1):c.15568C>G (p.Gln5190Glu) rs138368397 0.00020
NM_182961.4(SYNE1):c.13768A>G (p.Asn4590Asp) rs199761238 0.00019
NM_182961.4(SYNE1):c.23216C>A (p.Ser7739Tyr) rs149744490 0.00019
NM_182961.4(SYNE1):c.7045C>T (p.Leu2349Phe) rs370016934 0.00019
NM_182961.4(SYNE1):c.11594C>T (p.Thr3865Met) rs202173395 0.00016
NM_182961.4(SYNE1):c.19696A>G (p.Met6566Val) rs541395341 0.00016
NM_182961.4(SYNE1):c.9419C>T (p.Ala3140Val) rs146402274 0.00016
NM_182961.4(SYNE1):c.12115G>A (p.Val4039Ile) rs199774691 0.00015
NM_182961.4(SYNE1):c.4723C>T (p.Leu1575Phe) rs200424447 0.00015
NM_182961.4(SYNE1):c.13300G>A (p.Val4434Met) rs141609675 0.00014
NM_182961.4(SYNE1):c.14164G>A (p.Glu4722Lys) rs35484093 0.00014
NM_182961.4(SYNE1):c.1622A>G (p.Gln541Arg) rs532911105 0.00014
NM_182961.4(SYNE1):c.22072G>T (p.Ala7358Ser) rs145518327 0.00014
NM_182961.4(SYNE1):c.4378G>A (p.Val1460Ile) rs376463379 0.00013
NM_182961.4(SYNE1):c.9604C>T (p.Arg3202Cys) rs749550071 0.00013
NM_182961.4(SYNE1):c.11675T>C (p.Leu3892Ser) rs180727534 0.00012
NM_182961.4(SYNE1):c.15816G>T (p.Arg5272=) rs762050069 0.00012
NM_182961.4(SYNE1):c.6812C>T (p.Pro2271Leu) rs555536675 0.00012
NM_182961.4(SYNE1):c.8972C>T (p.Thr2991Met) rs763526846 0.00012
NM_182961.4(SYNE1):c.11429C>T (p.Thr3810Met) rs375577011 0.00011
NM_182961.4(SYNE1):c.13724G>T (p.Cys4575Phe) rs199701902 0.00011
NM_182961.4(SYNE1):c.14991G>T (p.Arg4997Ser) rs201306174 0.00011
NM_182961.4(SYNE1):c.18999G>C (p.Leu6333Phe) rs141934037 0.00011
NM_182961.4(SYNE1):c.19972A>G (p.Lys6658Glu) rs376891338 0.00011
NM_182961.4(SYNE1):c.21377A>G (p.Lys7126Arg) rs145882956 0.00011
NM_182961.4(SYNE1):c.8839C>G (p.Leu2947Val) rs756300560 0.00011
NM_182961.4(SYNE1):c.9934G>A (p.Asp3312Asn) rs147281213 0.00011
NM_182961.4(SYNE1):c.14491G>C (p.Val4831Leu) rs375977864 0.00010
NM_182961.4(SYNE1):c.15894C>T (p.Thr5298=) rs143416387 0.00010
NM_182961.4(SYNE1):c.19534G>T (p.Ala6512Ser) rs149272010 0.00010
NM_182961.4(SYNE1):c.21469C>T (p.Arg7157Cys) rs757688642 0.00010
NM_182961.4(SYNE1):c.13421G>A (p.Arg4474Gln) rs771898973 0.00009
NM_182961.4(SYNE1):c.14018G>A (p.Arg4673Gln) rs144963785 0.00009
NM_182961.4(SYNE1):c.19255C>G (p.Gln6419Glu) rs150700669 0.00009
NM_182961.4(SYNE1):c.19606T>C (p.Phe6536Leu) rs138707300 0.00009
NM_182961.4(SYNE1):c.21952G>A (p.Ala7318Thr) rs145494541 0.00009
NM_182961.4(SYNE1):c.12872C>T (p.Ala4291Val) rs151250199 0.00008
NM_182961.4(SYNE1):c.19015T>G (p.Tyr6339Asp) rs140567583 0.00008
NM_182961.4(SYNE1):c.24635G>A (p.Arg8212His) rs766462111 0.00008
NM_182961.4(SYNE1):c.2630A>G (p.Gln877Arg) rs369192821 0.00007
NM_182961.4(SYNE1):c.13031A>T (p.Glu4344Val) rs145639107 0.00006
NM_182961.4(SYNE1):c.13102G>A (p.Ala4368Thr) rs201900423 0.00006
NM_182961.4(SYNE1):c.14258T>C (p.Leu4753Pro) rs371189077 0.00006
NM_182961.4(SYNE1):c.14314T>G (p.Leu4772Val) rs143910248 0.00006
NM_182961.4(SYNE1):c.1665A>C (p.Gln555His) rs561648669 0.00006
NM_182961.4(SYNE1):c.18974T>C (p.Leu6325Pro) rs201361687 0.00006
NM_182961.4(SYNE1):c.25952G>A (p.Arg8651His) rs144888773 0.00006
NM_182961.4(SYNE1):c.310-468G>A rs143635963 0.00006
NM_182961.4(SYNE1):c.5049G>T (p.Met1683Ile) rs755866233 0.00006
NM_182961.4(SYNE1):c.8659A>C (p.Ile2887Leu) rs149218610 0.00006
NM_182961.4(SYNE1):c.13718A>C (p.Lys4573Thr) rs368653411 0.00005
NM_182961.4(SYNE1):c.17848G>C (p.Val5950Leu) rs200589166 0.00005
NM_182961.4(SYNE1):c.20738G>A (p.Arg6913His) rs760706012 0.00005
NM_182961.4(SYNE1):c.21322G>A (p.Gly7108Ser) rs777227521 0.00005
NM_182961.4(SYNE1):c.22519C>T (p.Arg7507Cys) rs141278167 0.00005
NM_182961.4(SYNE1):c.4000C>T (p.Arg1334Cys) rs754120599 0.00005
NM_182961.4(SYNE1):c.7523A>T (p.Gln2508Leu) rs201127061 0.00005
NM_182961.4(SYNE1):c.9371T>C (p.Met3124Thr) rs756079906 0.00005
NM_182961.4(SYNE1):c.11506C>G (p.Gln3836Glu) rs780637080 0.00004
NM_182961.4(SYNE1):c.12476G>A (p.Arg4159Lys) rs762119902 0.00004
NM_182961.4(SYNE1):c.1262C>T (p.Ala421Val) rs150409035 0.00004
NM_182961.4(SYNE1):c.17650C>T (p.Pro5884Ser) rs767508394 0.00004
NM_182961.4(SYNE1):c.18193C>T (p.Arg6065Trp) rs200209279 0.00004
NM_182961.4(SYNE1):c.21861C>T (p.Asn7287=) rs372155442 0.00004
NM_182961.4(SYNE1):c.24652G>A (p.Asp8218Asn) rs267600861 0.00004
NM_182961.4(SYNE1):c.24717C>G (p.His8239Gln) rs201548223 0.00004
NM_182961.4(SYNE1):c.24878G>A (p.Arg8293Gln) rs369073682 0.00004
NM_182961.4(SYNE1):c.3647C>T (p.Ala1216Val) rs200629713 0.00004
NM_182961.4(SYNE1):c.3952G>C (p.Glu1318Gln) rs201144728 0.00004
NM_182961.4(SYNE1):c.9814G>C (p.Val3272Leu) rs368607560 0.00004
NM_182961.4(SYNE1):c.10584T>G (p.His3528Gln) rs192623867 0.00003
NM_182961.4(SYNE1):c.11395G>A (p.Glu3799Lys) rs879779013 0.00003
NM_182961.4(SYNE1):c.12388C>G (p.Gln4130Glu) rs779969031 0.00003
NM_182961.4(SYNE1):c.14186C>T (p.Ala4729Val) rs749275993 0.00003
NM_182961.4(SYNE1):c.15608A>G (p.Glu5203Gly) rs375432465 0.00003
NM_182961.4(SYNE1):c.18930G>T (p.Gln6310His) rs759556319 0.00003
NM_182961.4(SYNE1):c.2030G>A (p.Arg677His) rs767684007 0.00003
NM_182961.4(SYNE1):c.22559G>A (p.Arg7520His) rs752057121 0.00003
NM_182961.4(SYNE1):c.24449A>G (p.Lys8150Arg) rs557350925 0.00003
NM_182961.4(SYNE1):c.337G>A (p.Asp113Asn) rs990137456 0.00003
NM_182961.4(SYNE1):c.495C>A (p.Ser165Arg) rs567913785 0.00003
NM_182961.4(SYNE1):c.9679G>A (p.Glu3227Lys) rs1024177161 0.00003
NM_182961.4(SYNE1):c.11962G>A (p.Asp3988Asn) rs148782440 0.00002
NM_182961.4(SYNE1):c.12323C>T (p.Ala4108Val) rs560488372 0.00002
NM_182961.4(SYNE1):c.12331A>T (p.Ile4111Phe) rs755885051 0.00002
NM_182961.4(SYNE1):c.13181T>G (p.Leu4394Arg) rs763501028 0.00002
NM_182961.4(SYNE1):c.15222A>C (p.Lys5074Asn) rs780677467 0.00002
NM_182961.4(SYNE1):c.16249A>G (p.Ile5417Val) rs528055779 0.00002
NM_182961.4(SYNE1):c.16371A>C (p.Gln5457His) rs370002959 0.00002
NM_182961.4(SYNE1):c.16726T>C (p.Ser5576Pro) rs373436725 0.00002
NM_182961.4(SYNE1):c.1849C>T (p.Arg617Cys) rs980349048 0.00002
NM_182961.4(SYNE1):c.22978C>T (p.Arg7660Trp) rs202017153 0.00002
NM_182961.4(SYNE1):c.23358T>A (p.Ser7786Arg) rs748682472 0.00002
NM_182961.4(SYNE1):c.24725A>G (p.Asp8242Gly) rs764282910 0.00002
NM_182961.4(SYNE1):c.275T>C (p.Ile92Thr) rs1007703591 0.00002
NM_182961.4(SYNE1):c.2T>C (p.Met1Thr) rs769726483 0.00002
NM_182961.4(SYNE1):c.5018G>A (p.Arg1673Gln) rs749115727 0.00002
NM_182961.4(SYNE1):c.7303C>T (p.Arg2435Cys) rs370082646 0.00002
NM_182961.4(SYNE1):c.8468A>G (p.Asp2823Gly) rs545685387 0.00002
NM_182961.4(SYNE1):c.10631A>T (p.Glu3544Val) rs777169518 0.00001
NM_182961.4(SYNE1):c.10639G>A (p.Ala3547Thr) rs1395813698 0.00001
NM_182961.4(SYNE1):c.11521G>A (p.Val3841Ile) rs1323758453 0.00001
NM_182961.4(SYNE1):c.13435C>T (p.Arg4479Cys) rs778601377 0.00001
NM_182961.4(SYNE1):c.13468A>G (p.Ser4490Gly) rs1194823767 0.00001
NM_182961.4(SYNE1):c.13832A>C (p.Gln4611Pro) rs762392590 0.00001
NM_182961.4(SYNE1):c.14039T>C (p.Ile4680Thr) rs766142799 0.00001
NM_182961.4(SYNE1):c.14069T>C (p.Leu4690Pro) rs1425996795 0.00001
NM_182961.4(SYNE1):c.14407A>G (p.Lys4803Glu) rs776468403 0.00001
NM_182961.4(SYNE1):c.14565G>C (p.Arg4855Ser) rs1237053788 0.00001
NM_182961.4(SYNE1):c.14683C>T (p.Arg4895Cys) rs776494157 0.00001
NM_182961.4(SYNE1):c.15908G>C (p.Arg5303Pro) rs537825329 0.00001
NM_182961.4(SYNE1):c.15938C>G (p.Thr5313Ser) rs779313924 0.00001
NM_182961.4(SYNE1):c.17260A>T (p.Ile5754Leu) rs1044270413 0.00001
NM_182961.4(SYNE1):c.19366G>A (p.Asp6456Asn) rs376421422 0.00001
NM_182961.4(SYNE1):c.19586C>T (p.Ala6529Val) rs1413633616 0.00001
NM_182961.4(SYNE1):c.20044G>A (p.Val6682Met) rs1204097969 0.00001
NM_182961.4(SYNE1):c.20417A>C (p.Asp6806Ala) rs753654674 0.00001
NM_182961.4(SYNE1):c.20546T>C (p.Val6849Ala) rs886043522 0.00001
NM_182961.4(SYNE1):c.21077A>C (p.Glu7026Ala) rs777755452 0.00001
NM_182961.4(SYNE1):c.21835G>A (p.Val7279Ile) rs747185019 0.00001
NM_182961.4(SYNE1):c.22282A>C (p.Lys7428Gln) rs771618181 0.00001
NM_182961.4(SYNE1):c.23138G>A (p.Arg7713His) rs750911961 0.00001
NM_182961.4(SYNE1):c.23248C>T (p.Leu7750Phe) rs778500015 0.00001
NM_182961.4(SYNE1):c.23258G>A (p.Arg7753His) rs779568455 0.00001
NM_182961.4(SYNE1):c.23549G>T (p.Ser7850Ile) rs781532655 0.00001
NM_182961.4(SYNE1):c.23936G>A (p.Arg7979Gln) rs769773495 0.00001
NM_182961.4(SYNE1):c.23996G>A (p.Arg7999Gln) rs267600862 0.00001
NM_182961.4(SYNE1):c.24191G>A (p.Arg8064His) rs1042685641 0.00001
NM_182961.4(SYNE1):c.25376C>T (p.Thr8459Met) rs371112679 0.00001
NM_182961.4(SYNE1):c.25447A>G (p.Lys8483Glu) rs1253032018 0.00001
NM_182961.4(SYNE1):c.25489G>A (p.Ala8497Thr) rs777390431 0.00001
NM_182961.4(SYNE1):c.25601T>C (p.Val8534Ala) rs746452797 0.00001
NM_182961.4(SYNE1):c.3506A>T (p.Glu1169Val) rs750101869 0.00001
NM_182961.4(SYNE1):c.3638C>A (p.Ser1213Tyr) rs1226690928 0.00001
NM_182961.4(SYNE1):c.3962T>C (p.Leu1321Pro) rs773202823 0.00001
NM_182961.4(SYNE1):c.4597G>A (p.Gly1533Arg) rs573641821 0.00001
NM_182961.4(SYNE1):c.5366A>G (p.Gln1789Arg) rs371650310 0.00001
NM_182961.4(SYNE1):c.5434G>C (p.Glu1812Gln) rs1165810511 0.00001
NM_182961.4(SYNE1):c.600A>T (p.Val200=) rs781563259 0.00001
NM_182961.4(SYNE1):c.7102C>T (p.Arg2368Cys) rs780033455 0.00001
NM_182961.4(SYNE1):c.7309G>A (p.Gly2437Ser) rs140948068 0.00001
NM_182961.4(SYNE1):c.8258A>G (p.Asp2753Gly) rs761090851 0.00001
NM_182961.4(SYNE1):c.9325G>C (p.Glu3109Gln) rs776421373 0.00001
NM_182961.4(SYNE1):c.9349G>A (p.Gly3117Arg) rs566953005 0.00001
NM_182961.4(SYNE1):c.9755A>G (p.His3252Arg) rs1393231277 0.00001
NM_182961.4(SYNE1):c.9926C>T (p.Pro3309Leu) rs559031643 0.00001
GRCh37/hg19 6q25.2(chr6:152613587-152772375)x1
NM_182961.4(SYNE1):c.10020A>G (p.Ile3340Met) rs756088149
NM_182961.4(SYNE1):c.10259C>T (p.Ala3420Val) rs748911036
NM_182961.4(SYNE1):c.10502T>C (p.Leu3501Pro) rs1389585760
NM_182961.4(SYNE1):c.1072T>C (p.Tyr358His) rs779366372
NM_182961.4(SYNE1):c.10863_10866del (p.Ser3622fs)
NM_182961.4(SYNE1):c.10926G>A (p.Lys3642=) rs2096802923
NM_182961.4(SYNE1):c.11010C>A (p.His3670Gln) rs143673038
NM_182961.4(SYNE1):c.11625A>G (p.Ser3875=) rs1057518265
NM_182961.4(SYNE1):c.116C>G (p.Ser39Cys) rs886043971
NM_182961.4(SYNE1):c.1181C>A (p.Ser394Tyr)
NM_182961.4(SYNE1):c.12342_12350del (p.Glu4115_Thr4117del) rs749906433
NM_182961.4(SYNE1):c.12607_12609delinsAAA (p.Glu4203Lys) rs2096322019
NM_182961.4(SYNE1):c.12655C>T (p.Leu4219Phe)
NM_182961.4(SYNE1):c.12707T>G (p.Leu4236Arg) rs1554479643
NM_182961.4(SYNE1):c.13183G>A (p.Glu4395Lys)
NM_182961.4(SYNE1):c.13244T>A (p.Leu4415His)
NM_182961.4(SYNE1):c.13537C>G (p.Leu4513Val)
NM_182961.4(SYNE1):c.13851TCT[1] (p.Leu4620del) rs1085307610
NM_182961.4(SYNE1):c.14042A>G (p.Glu4681Gly) rs2153971655
NM_182961.4(SYNE1):c.14147G>A (p.Cys4716Tyr) rs1346910826
NM_182961.4(SYNE1):c.14308G>T (p.Val4770Phe) rs2096217582
NM_182961.4(SYNE1):c.14356A>T (p.Met4786Leu)
NM_182961.4(SYNE1):c.14536C>A (p.Leu4846Ile) rs757647899
NM_182961.4(SYNE1):c.14707G>T (p.Val4903Leu) rs1348094255
NM_182961.4(SYNE1):c.15372G>C (p.Leu5124Phe) rs752634980
NM_182961.4(SYNE1):c.15461C>G (p.Ser5154Cys) rs2153949677
NM_182961.4(SYNE1):c.15745A>G (p.Thr5249Ala)
NM_182961.4(SYNE1):c.16102A>G (p.Thr5368Ala) rs1342214470
NM_182961.4(SYNE1):c.16536T>G (p.Ile5512Met)
NM_182961.4(SYNE1):c.17293C>T (p.Pro5765Ser)
NM_182961.4(SYNE1):c.17639G>T (p.Arg5880Leu) rs767844376
NM_182961.4(SYNE1):c.17644C>T (p.Pro5882Ser)
NM_182961.4(SYNE1):c.17687T>C (p.Ile5896Thr)
NM_182961.4(SYNE1):c.17893CAG[1] (p.Gln5966del)
NM_182961.4(SYNE1):c.17903_17906delinsT (p.Tyr5968_Gln5969delinsLeu) rs1467646427
NM_182961.4(SYNE1):c.18008A>G (p.His6003Arg) rs1317045171
NM_182961.4(SYNE1):c.18080A>G (p.Glu6027Gly) rs780920250
NM_182961.4(SYNE1):c.18082C>A (p.Leu6028Met) rs1554341677
NM_182961.4(SYNE1):c.18574-11G>A rs1477560269
NM_182961.4(SYNE1):c.18658C>A (p.Arg6220Ser) rs201685248
NM_182961.4(SYNE1):c.18785A>G (p.His6262Arg)
NM_182961.4(SYNE1):c.19169C>A (p.Thr6390Asn) rs1554285228
NM_182961.4(SYNE1):c.19300G>T (p.Asp6434Tyr) rs1348758893
NM_182961.4(SYNE1):c.19721T>C (p.Ile6574Thr)
NM_182961.4(SYNE1):c.19826T>C (p.Met6609Thr) rs769943207
NM_182961.4(SYNE1):c.20231C>A (p.Pro6744His)
NM_182961.4(SYNE1):c.20603G>A (p.Arg6868Gln) rs757835316
NM_182961.4(SYNE1):c.20664G>C (p.Trp6888Cys)
NM_182961.4(SYNE1):c.21080A>G (p.Tyr7027Cys)
NM_182961.4(SYNE1):c.21181C>G (p.Leu7061Val) rs1489410456
NM_182961.4(SYNE1):c.21259G>T (p.Ala7087Ser) rs1321824454
NM_182961.4(SYNE1):c.21464G>C (p.Arg7155Pro)
NM_182961.4(SYNE1):c.21851A>C (p.Gln7284Pro)
NM_182961.4(SYNE1):c.21875G>T (p.Gly7292Val) rs1356061112
NM_182961.4(SYNE1):c.22737G>A (p.Leu7579=) rs2153409080
NM_182961.4(SYNE1):c.22972A>G (p.Ser7658Gly) rs1438394866
NM_182961.4(SYNE1):c.23054C>A (p.Ser7685Tyr)
NM_182961.4(SYNE1):c.23168G>C (p.Ser7723Thr) rs146280967
NM_182961.4(SYNE1):c.23207A>G (p.Asp7736Gly)
NM_182961.4(SYNE1):c.2359_2360delinsAA (p.Ala787Lys) rs1593187196
NM_182961.4(SYNE1):c.23645A>G (p.Glu7882Gly) rs1057518415
NM_182961.4(SYNE1):c.23694G>C (p.Arg7898Ser)
NM_182961.4(SYNE1):c.23903C>G (p.Ser7968Cys) rs1554441768
NM_182961.4(SYNE1):c.2392A>C (p.Lys798Gln)
NM_182961.4(SYNE1):c.2414C>T (p.Pro805Leu) rs201508577
NM_182961.4(SYNE1):c.24176T>A (p.Ile8059Asn)
NM_182961.4(SYNE1):c.24356G>A (p.Ser8119Asn) rs1400348957
NM_182961.4(SYNE1):c.24481A>G (p.Asn8161Asp) rs36215251
NM_182961.4(SYNE1):c.24530G>C (p.Ser8177Thr)
NM_182961.4(SYNE1):c.245G>T (p.Arg82Leu) rs143900928
NM_182961.4(SYNE1):c.24855G>T (p.Trp8285Cys) rs2059832834
NM_182961.4(SYNE1):c.24988_24989delinsTG (p.Ala8330Cys) rs2152832669
NM_182961.4(SYNE1):c.25030G>A (p.Asp8344Asn)
NM_182961.4(SYNE1):c.25199G>A (p.Ser8400Asn) rs769976238
NM_182961.4(SYNE1):c.25384G>A (p.Glu8462Lys)
NM_182961.4(SYNE1):c.25654T>C (p.Cys8552Arg) rs1432731171
NM_182961.4(SYNE1):c.25840G>C (p.Asp8614His) rs756313747
NM_182961.4(SYNE1):c.2830C>T (p.Arg944Trp)
NM_182961.4(SYNE1):c.3494G>A (p.Arg1165His) rs201354687
NM_182961.4(SYNE1):c.3494G>T (p.Arg1165Leu) rs201354687
NM_182961.4(SYNE1):c.3539C>A (p.Thr1180Asn)
NM_182961.4(SYNE1):c.3911_3934dup (p.Gly1304_His1311dup) rs2154233106
NM_182961.4(SYNE1):c.4316A>C (p.Lys1439Thr)
NM_182961.4(SYNE1):c.4522C>A (p.Gln1508Lys) rs1289081599
NM_182961.4(SYNE1):c.5513A>T (p.Asp1838Val)
NM_182961.4(SYNE1):c.5633C>T (p.Ala1878Val) rs2154182409
NM_182961.4(SYNE1):c.5699A>G (p.Asn1900Ser)
NM_182961.4(SYNE1):c.6140A>G (p.Gln2047Arg)
NM_182961.4(SYNE1):c.628G>A (p.Gly210Arg)
NM_182961.4(SYNE1):c.656C>T (p.Ala219Val) rs886043077
NM_182961.4(SYNE1):c.6772G>T (p.Val2258Phe) rs748502681
NM_182961.4(SYNE1):c.7061G>A (p.Ser2354Asn)
NM_182961.4(SYNE1):c.7261T>A (p.Trp2421Arg) rs765978097
NM_182961.4(SYNE1):c.7421A>G (p.Tyr2474Cys)
NM_182961.4(SYNE1):c.7795T>G (p.Ser2599Ala) rs2154133962
NM_182961.4(SYNE1):c.8468_8470del (p.Asp2823_Ile2824delinsVal)
NM_182961.4(SYNE1):c.8719G>T (p.Val2907Leu)
NM_182961.4(SYNE1):c.8741G>A (p.Ser2914Asn) rs1563553423
NM_182961.4(SYNE1):c.9000C>A (p.His3000Gln) rs1057524475
NM_182961.4(SYNE1):c.9460T>C (p.Trp3154Arg)
NM_182961.4(SYNE1):c.9544_9545delinsAA (p.Ala3182Asn) rs1057519421
NM_182961.4(SYNE1):c.9562T>G (p.Trp3188Gly) rs2154085788

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