ClinVar Miner

List of variants in gene SYN1 studied for syndromic intellectual disability

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 451
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HGVS dbSNP gnomAD frequency
NM_006950.3(SYN1):c.510T>C (p.Asn170=) rs1142636 0.39391
NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala) rs200533370 0.01462
NM_006950.3(SYN1):c.912C>T (p.Ala304=) rs62636605 0.01433
NM_006950.3(SYN1):c.152C>G (p.Ala51Gly) rs187134574 0.01317
NM_006950.3(SYN1):c.838-8T>G rs12394306 0.01234
NM_006950.3(SYN1):c.528-19C>T rs190935498 0.00192
NM_006950.3(SYN1):c.980+14C>T rs376734047 0.00157
NM_006950.3(SYN1):c.1107C>T (p.Ile369=) rs150248483 0.00107
NM_006950.3(SYN1):c.1110C>T (p.Cys370=) rs141925310 0.00101
NM_006950.3(SYN1):c.1325T>C (p.Leu442Pro) rs375440874 0.00058
NM_006950.3(SYN1):c.1615G>A (p.Gly539Ser) rs794727076 0.00058
NM_006950.3(SYN1):c.426A>G (p.Lys142=) rs145911562 0.00054
NM_006950.3(SYN1):c.1701A>T (p.Thr567=) rs770195822 0.00046
NM_006950.3(SYN1):c.1297C>T (p.His433Tyr) rs41298474 0.00038
NM_006950.3(SYN1):c.1063C>T (p.Leu355=) rs191822319 0.00025
NM_006950.3(SYN1):c.1569G>A (p.Ala523=) rs587781185 0.00022
NM_006950.3(SYN1):c.1055+12G>A rs373071109 0.00021
NM_006950.3(SYN1):c.939C>T (p.Asp313=) rs373928763 0.00020
NM_006950.3(SYN1):c.999G>T (p.Gly333=) rs752926074 0.00019
NM_006950.3(SYN1):c.1968G>A (p.Pro656=) rs199844514 0.00018
NM_006950.3(SYN1):c.1369G>C (p.Ala457Pro) rs748323076 0.00017
NM_006950.3(SYN1):c.980+20C>A rs777705880 0.00014
NM_006950.3(SYN1):c.319G>A (p.Gly107Ser) rs765045862 0.00012
NM_006950.3(SYN1):c.1372C>G (p.Gln458Glu) rs372445055 0.00011
NM_006950.3(SYN1):c.1158+17G>T rs769125543 0.00010
NM_006950.3(SYN1):c.526C>T (p.Arg176Trp) rs769458536 0.00010
NM_006950.3(SYN1):c.987G>A (p.Thr329=) rs371126022 0.00008
NM_006950.3(SYN1):c.506G>A (p.Arg169Gln) rs775109362 0.00007
NM_006950.3(SYN1):c.564C>T (p.His188=) rs768956462 0.00007
NM_006950.3(SYN1):c.981-19C>T rs375349005 0.00007
NM_006950.3(SYN1):c.1137C>T (p.Asp379=) rs762471804 0.00006
NM_006950.3(SYN1):c.1370C>A (p.Ala457Asp) rs781533684 0.00006
NM_006950.3(SYN1):c.249G>T (p.Ala83=) rs780753887 0.00006
NM_006950.3(SYN1):c.436-12T>C rs1057120503 0.00006
NM_006950.3(SYN1):c.897G>A (p.Lys299=) rs142297702 0.00006
NM_006950.3(SYN1):c.1026G>A (p.Ala342=) rs777301855 0.00005
NM_006950.3(SYN1):c.108T>C (p.Gly36=) rs758180955 0.00005
NM_006950.3(SYN1):c.1345T>A (p.Ser449Thr) rs796053394 0.00005
NM_006950.3(SYN1):c.1961G>A (p.Gly654Glu) rs749342768 0.00005
NM_006950.3(SYN1):c.360C>A (p.Asp120Glu) rs372165835 0.00005
NM_006950.3(SYN1):c.720G>A (p.Gly240=) rs149166420 0.00005
NM_006950.3(SYN1):c.844G>A (p.Val282Ile) rs753751194 0.00005
NM_006950.3(SYN1):c.944G>A (p.Arg315His) rs370854090 0.00005
NM_006950.3(SYN1):c.1065G>A (p.Leu355=) rs1410566216 0.00004
NM_006950.3(SYN1):c.1263G>A (p.Gln421=) rs746903128 0.00004
NM_006950.3(SYN1):c.1321G>T (p.Ala441Ser) rs772106134 0.00004
NM_006950.3(SYN1):c.1692C>T (p.Thr564=) rs1463522576 0.00004
NM_006950.3(SYN1):c.371C>T (p.Thr124Ile) rs1339768860 0.00004
NM_006950.3(SYN1):c.435+10G>A rs771547188 0.00004
NM_006950.3(SYN1):c.630C>T (p.Ile210=) rs35944641 0.00004
NM_006950.3(SYN1):c.946G>A (p.Val316Ile) rs770266055 0.00004
NM_006950.3(SYN1):c.1493C>T (p.Pro498Leu) rs1198466921 0.00003
NM_006950.3(SYN1):c.430G>A (p.Glu144Lys) rs771860069 0.00003
NM_006950.3(SYN1):c.540G>A (p.Pro180=) rs769771865 0.00003
NM_006950.3(SYN1):c.580C>T (p.Arg194Cys) rs138985151 0.00003
NM_006950.3(SYN1):c.585C>T (p.Asn195=) rs746025499 0.00003
NM_006950.3(SYN1):c.678C>T (p.Pro226=) rs1331758208 0.00003
NM_006950.3(SYN1):c.838-12G>A rs373591101 0.00003
NM_006950.3(SYN1):c.1122G>A (p.Ala374=) rs757867825 0.00002
NM_006950.3(SYN1):c.1150A>G (p.Ile384Val) rs772936641 0.00002
NM_006950.3(SYN1):c.1159-4C>T rs897051260 0.00002
NM_006950.3(SYN1):c.1179G>A (p.Pro393=) rs1471942298 0.00002
NM_006950.3(SYN1):c.1251C>A (p.Ala417=) rs765003722 0.00002
NM_006950.3(SYN1):c.1305+13G>C rs749347824 0.00002
NM_006950.3(SYN1):c.1356C>T (p.Pro452=) rs749470625 0.00002
NM_006950.3(SYN1):c.1362G>A (p.Gly454=) rs778151348 0.00002
NM_006950.3(SYN1):c.1971C>T (p.His657=) rs201236500 0.00002
NM_006950.3(SYN1):c.439G>A (p.Glu147Lys) rs201659924 0.00002
NM_006950.3(SYN1):c.473A>G (p.Asn158Ser) rs765486966 0.00002
NM_006950.3(SYN1):c.505C>T (p.Arg169Trp) rs762284940 0.00002
NM_006950.3(SYN1):c.565G>A (p.Ala189Thr) rs2057893188 0.00002
NM_006950.3(SYN1):c.646T>C (p.Leu216=) rs1386366470 0.00002
NM_006950.3(SYN1):c.1076C>A (p.Thr359Lys) rs765183335 0.00001
NM_006950.3(SYN1):c.1159-7C>T rs767722750 0.00001
NM_006950.3(SYN1):c.1183A>G (p.Ile395Val) rs185229386 0.00001
NM_006950.3(SYN1):c.1198G>A (p.Asp400Asn) rs772668988 0.00001
NM_006950.3(SYN1):c.1258C>T (p.Arg420Trp) rs780269723 0.00001
NM_006950.3(SYN1):c.1259G>A (p.Arg420Gln) rs941190653 0.00001
NM_006950.3(SYN1):c.1310C>T (p.Pro437Leu) rs895517774 0.00001
NM_006950.3(SYN1):c.1363C>A (p.Pro455Thr) rs1371497364 0.00001
NM_006950.3(SYN1):c.1394-7C>T rs1411087897 0.00001
NM_006950.3(SYN1):c.1425G>A (p.Gln475=) rs1372197618 0.00001
NM_006950.3(SYN1):c.1455G>A (p.Pro485=) rs1302222032 0.00001
NM_006950.3(SYN1):c.1519C>A (p.Arg507Ser) rs2057770942 0.00001
NM_006950.3(SYN1):c.1578C>G (p.Thr526=) rs367796785 0.00001
NM_006950.3(SYN1):c.1657T>C (p.Ser553Pro) rs1165799072 0.00001
NM_006950.3(SYN1):c.1713C>T (p.Gly571=) rs1243624256 0.00001
NM_006950.3(SYN1):c.1737G>T (p.Gly579=) rs1290669980 0.00001
NM_006950.3(SYN1):c.1818G>A (p.Gln606=) rs967215240 0.00001
NM_006950.3(SYN1):c.1820C>T (p.Ala607Val) rs1339706473 0.00001
NM_006950.3(SYN1):c.184T>G (p.Ser62Ala) rs1294224206 0.00001
NM_006950.3(SYN1):c.1943C>T (p.Ala648Val) rs796053397 0.00001
NM_006950.3(SYN1):c.1967C>T (p.Pro656Leu) rs1391622247 0.00001
NM_006950.3(SYN1):c.213G>A (p.Ser71=) rs774873821 0.00001
NM_006950.3(SYN1):c.218G>C (p.Gly73Ala) rs1183767661 0.00001
NM_006950.3(SYN1):c.316G>T (p.Ala106Ser) rs794726957 0.00001
NM_006950.3(SYN1):c.338C>T (p.Ser113Phe) rs1488258803 0.00001
NM_006950.3(SYN1):c.340A>G (p.Arg114Gly) rs760804604 0.00001
NM_006950.3(SYN1):c.438C>T (p.Ala146=) rs1445481586 0.00001
NM_006950.3(SYN1):c.513G>A (p.Gly171=) rs758981794 0.00001
NM_006950.3(SYN1):c.557G>A (p.Arg186His) rs1171134481 0.00001
NM_006950.3(SYN1):c.586G>A (p.Gly196Arg) rs1207640513 0.00001
NM_006950.3(SYN1):c.722C>T (p.Thr241Ile) rs796053399 0.00001
NM_006950.3(SYN1):c.738A>G (p.Leu246=) rs184905398 0.00001
NM_006950.3(SYN1):c.84G>T (p.Pro28=) rs1197131143 0.00001
NM_006950.3(SYN1):c.883G>A (p.Val295Met) rs1085307749 0.00001
NM_006950.3(SYN1):c.959G>C (p.Gly320Ala) rs1356850744 0.00001
NC_000023.10:g.(?_47432243)_(47436920_?)del
NC_000023.10:g.(?_47460607)_(47464667_?)del
NC_000023.10:g.(?_47464357)_(47479147_?)dup
NM_006950.3(SYN1):c.1001del (p.Asn334fs) rs1603051674
NM_006950.3(SYN1):c.1013A>G (p.Asn338Ser) rs2057777720
NM_006950.3(SYN1):c.101C>T (p.Pro34Leu) rs2147933524
NM_006950.3(SYN1):c.1025C>A (p.Ala342Glu)
NM_006950.3(SYN1):c.102G>A (p.Pro34=)
NM_006950.3(SYN1):c.1046T>C (p.Met349Thr) rs2057777596
NM_006950.3(SYN1):c.1055+10C>T
NM_006950.3(SYN1):c.1055+11C>T
NM_006950.3(SYN1):c.1055+17C>G
NM_006950.3(SYN1):c.1055+5G>A rs1479589627
NM_006950.3(SYN1):c.1055+9C>T
NM_006950.3(SYN1):c.1056-14_1056-8del rs377385507
NM_006950.3(SYN1):c.1056-20C>T
NM_006950.3(SYN1):c.1067G>A (p.Trp356Ter) rs137852560
NM_006950.3(SYN1):c.1072G>A (p.Asp358Asn)
NM_006950.3(SYN1):c.1077G>A (p.Thr359=)
NM_006950.3(SYN1):c.1093G>A (p.Gly365Arg) rs2147913172
NM_006950.3(SYN1):c.1110C>G (p.Cys370Trp) rs141925310
NM_006950.3(SYN1):c.112_126del (p.His38_Ala42del) rs2057941937
NM_006950.3(SYN1):c.1134G>A (p.Lys378=)
NM_006950.3(SYN1):c.1144del (p.Asp382fs)
NM_006950.3(SYN1):c.1149C>T (p.His383=)
NM_006950.3(SYN1):c.1158+15G>T
NM_006950.3(SYN1):c.1158+16G>A
NM_006950.3(SYN1):c.1158+1G>T
NM_006950.3(SYN1):c.1158+8C>T
NM_006950.3(SYN1):c.1159-10C>T
NM_006950.3(SYN1):c.1159-18A>G
NM_006950.3(SYN1):c.1159-20G>A rs1045349354
NM_006950.3(SYN1):c.1159-2A>G
NM_006950.3(SYN1):c.1159-3del
NM_006950.3(SYN1):c.1159-6C>T rs2057774148
NM_006950.3(SYN1):c.1161G>A (p.Val387=) rs2057774095
NM_006950.3(SYN1):c.1166dup (p.Ser390fs) rs2147912740
NM_006950.3(SYN1):c.1176G>A (p.Met392Ile)
NM_006950.3(SYN1):c.117C>T (p.Ser39=)
NM_006950.3(SYN1):c.1200T>G (p.Asp400Glu) rs2057773904
NM_006950.3(SYN1):c.1202A>T (p.Glu401Val)
NM_006950.3(SYN1):c.1208_1211del (p.Lys403fs)
NM_006950.3(SYN1):c.120C>T (p.Pro40=)
NM_006950.3(SYN1):c.1215C>A (p.Leu405=)
NM_006950.3(SYN1):c.1218C>T (p.Ile406=)
NM_006950.3(SYN1):c.121G>A (p.Gly41Arg) rs2057941966
NM_006950.3(SYN1):c.1227C>A (p.Leu409=) rs1603051010
NM_006950.3(SYN1):c.1227C>T (p.Leu409=) rs1603051010
NM_006950.3(SYN1):c.1228G>A (p.Val410Met)
NM_006950.3(SYN1):c.1228G>T (p.Val410Leu)
NM_006950.3(SYN1):c.122del (p.Gly41fs) rs2147933505
NM_006950.3(SYN1):c.1236C>T (p.Asn412=)
NM_006950.3(SYN1):c.1239G>A (p.Lys413=)
NM_006950.3(SYN1):c.1256C>G (p.Pro419Arg)
NM_006950.3(SYN1):c.1258C>G (p.Arg420Gly) rs780269723
NM_006950.3(SYN1):c.1258_1261dup (p.Gln421fs) rs2147912678
NM_006950.3(SYN1):c.1258dup (p.Arg420fs)
NM_006950.3(SYN1):c.1264C>A (p.Arg422=) rs757027813
NM_006950.3(SYN1):c.1264C>T (p.Arg422Ter) rs757027813
NM_006950.3(SYN1):c.1265G>A (p.Arg422Gln)
NM_006950.3(SYN1):c.1266del (p.Gln423fs)
NM_006950.3(SYN1):c.1269G>T (p.Gln423His)
NM_006950.3(SYN1):c.1269_1270delinsTT (p.Gln423_Arg424delinsHisTrp) rs2057773624
NM_006950.3(SYN1):c.1271G>A (p.Arg424Gln)
NM_006950.3(SYN1):c.1287del (p.Arg430fs)
NM_006950.3(SYN1):c.1305+10C>G
NM_006950.3(SYN1):c.1305+14C>T
NM_006950.3(SYN1):c.1305+18G>A
NM_006950.3(SYN1):c.1305+6G>T
NM_006950.3(SYN1):c.1306-18T>C
NM_006950.3(SYN1):c.1306-5C>T
NM_006950.3(SYN1):c.1306-6C>T
NM_006950.3(SYN1):c.1306-9C>T rs1603050792
NM_006950.3(SYN1):c.1310C>A (p.Pro437Gln)
NM_006950.3(SYN1):c.1311G>A (p.Pro437=)
NM_006950.3(SYN1):c.1319G>A (p.Gly440Glu) rs1603050776
NM_006950.3(SYN1):c.1321G>A (p.Ala441Thr) rs772106134
NM_006950.3(SYN1):c.1321dup (p.Ala441fs)
NM_006950.3(SYN1):c.1326G>A (p.Leu442=)
NM_006950.3(SYN1):c.132C>T (p.Pro44=)
NM_006950.3(SYN1):c.1330T>G (p.Leu444Val)
NM_006950.3(SYN1):c.1331_1336del (p.Leu444_Arg446delinsCys)
NM_006950.3(SYN1):c.1335C>T (p.Gly445=) rs2147912475
NM_006950.3(SYN1):c.1338C>T (p.Arg446=)
NM_006950.3(SYN1):c.1342A>T (p.Thr448Ser)
NM_006950.3(SYN1):c.1354C>T (p.Pro452Ser) rs2147912470
NM_006950.3(SYN1):c.1355C>T (p.Pro452Leu) rs2147912468
NM_006950.3(SYN1):c.1363C>T (p.Pro455Ser) rs1371497364
NM_006950.3(SYN1):c.1371T>C (p.Ala457=)
NM_006950.3(SYN1):c.1374G>A (p.Gln458=)
NM_006950.3(SYN1):c.1380A>T (p.Arg460=) rs2147912444
NM_006950.3(SYN1):c.1383C>A (p.Pro461=)
NM_006950.3(SYN1):c.1385dup (p.Pro463fs) rs2147912440
NM_006950.3(SYN1):c.1389A>C (p.Pro463=) rs1435656023
NM_006950.3(SYN1):c.1389A>G (p.Pro463=)
NM_006950.3(SYN1):c.1394-10T>G rs1603050623
NM_006950.3(SYN1):c.1394-13C>T
NM_006950.3(SYN1):c.1394-18_1394-15del
NM_006950.3(SYN1):c.1394-7C>A rs1411087897
NM_006950.3(SYN1):c.1398C>T (p.Gly466=)
NM_006950.3(SYN1):c.139G>A (p.Gly47Arg) rs1477670336
NM_006950.3(SYN1):c.1404A>C (p.Pro468=)
NM_006950.3(SYN1):c.1406dup (p.Pro470fs)
NM_006950.3(SYN1):c.1410G>A (p.Pro470=)
NM_006950.3(SYN1):c.1414C>T (p.Pro472Ser) rs797046019
NM_006950.3(SYN1):c.141G>C (p.Gly47=) rs2057941844
NM_006950.3(SYN1):c.141G>T (p.Gly47=)
NM_006950.3(SYN1):c.142A>T (p.Thr48Ser)
NM_006950.3(SYN1):c.1435C>A (p.Pro479Thr)
NM_006950.3(SYN1):c.1438C>T (p.Pro480Ser)
NM_006950.3(SYN1):c.1439C>T (p.Pro480Leu)
NM_006950.3(SYN1):c.1439dup (p.Leu481fs) rs1556857481
NM_006950.3(SYN1):c.1444C>T (p.Gln482Ter)
NM_006950.3(SYN1):c.1447C>T (p.Gln483Ter) rs2057771219
NM_006950.3(SYN1):c.144C>G (p.Thr48=)
NM_006950.3(SYN1):c.1460C>T (p.Pro487Leu) rs2147912337
NM_006950.3(SYN1):c.1470GCA[1] (p.Gln491del) rs775858141
NM_006950.3(SYN1):c.1471del (p.Gln491fs) rs2147912333
NM_006950.3(SYN1):c.1481C>T (p.Ser494Leu)
NM_006950.3(SYN1):c.1490G>A (p.Gly497Glu) rs2147912324
NM_006950.3(SYN1):c.14G>A (p.Arg5Gln)
NM_006950.3(SYN1):c.1500_1519del (p.Gly501fs)
NM_006950.3(SYN1):c.150T>G (p.Thr50=) rs1556861816
NM_006950.3(SYN1):c.1513C>T (p.Pro505Ser)
NM_006950.3(SYN1):c.1516C>T (p.Gln506Ter) rs1603050544
NM_006950.3(SYN1):c.1525C>T (p.Pro509Ser)
NM_006950.3(SYN1):c.1538C>T (p.Ser513Leu)
NM_006950.3(SYN1):c.1554C>T (p.Pro518=)
NM_006950.3(SYN1):c.1556C>T (p.Ala519Val)
NM_006950.3(SYN1):c.1557G>A (p.Ala519=)
NM_006950.3(SYN1):c.1557G>T (p.Ala519=)
NM_006950.3(SYN1):c.1568C>T (p.Ala523Val) rs1341949224
NM_006950.3(SYN1):c.1571C>T (p.Pro524Leu) rs2057770771
NM_006950.3(SYN1):c.1577C>T (p.Thr526Ile) rs2147912281
NM_006950.3(SYN1):c.1589G>A (p.Gly530Asp)
NM_006950.3(SYN1):c.1592G>A (p.Arg531His) rs2147912269
NM_006950.3(SYN1):c.1594C>T (p.Gln532Ter)
NM_006950.3(SYN1):c.1600C>T (p.Arg534Trp)
NM_006950.3(SYN1):c.1609G>A (p.Ala537Thr) rs1603050507
NM_006950.3(SYN1):c.1611G>A (p.Ala537=) rs2147912259
NM_006950.3(SYN1):c.1614A>T (p.Gly538=)
NM_006950.3(SYN1):c.1624G>A (p.Ala542Thr) rs1603050490
NM_006950.3(SYN1):c.1629T>C (p.Pro543=) rs1027134708
NM_006950.3(SYN1):c.1636G>A (p.Ala546Thr)
NM_006950.3(SYN1):c.1639C>A (p.Arg547Ser)
NM_006950.3(SYN1):c.1640G>A (p.Arg547His)
NM_006950.3(SYN1):c.1646C>T (p.Pro549Leu)
NM_006950.3(SYN1):c.1647C>T (p.Pro549=)
NM_006950.3(SYN1):c.1647_1650del (p.Ala550fs)
NM_006950.3(SYN1):c.1647_1650dup (p.Ser551fs)
NM_006950.3(SYN1):c.1648G>A (p.Ala550Thr) rs397514680
NM_006950.3(SYN1):c.1648_1649delinsTT (p.Ala550Phe) rs2057770383
NM_006950.3(SYN1):c.1654C>T (p.Pro552Ser)
NM_006950.3(SYN1):c.1655del (p.Pro552fs)
NM_006950.3(SYN1):c.1663C>T (p.Gln555Ter) rs397514679
NM_006950.3(SYN1):c.1667G>T (p.Arg556Leu) rs913197225
NM_006950.3(SYN1):c.1673C>T (p.Ala558Val) rs2147912173
NM_006950.3(SYN1):c.1677C>G (p.Gly559=) rs2147912166
NM_006950.3(SYN1):c.1677C>T (p.Gly559=) rs2147912166
NM_006950.3(SYN1):c.1680C>A (p.Pro560=)
NM_006950.3(SYN1):c.1682C>G (p.Pro561Arg) rs2147912162
NM_006950.3(SYN1):c.1682dup (p.Gln562fs) rs2147912165
NM_006950.3(SYN1):c.1683A>G (p.Pro561=) rs2147912160
NM_006950.3(SYN1):c.168G>C (p.Gly56=)
NM_006950.3(SYN1):c.169G>A (p.Val57Ile) rs1200321961
NM_006950.3(SYN1):c.1704C>G (p.Ser568=)
NM_006950.3(SYN1):c.1711G>A (p.Gly571Ser) rs1284009431
NM_006950.3(SYN1):c.1715C>A (p.Pro572Gln)
NM_006950.3(SYN1):c.1726A>G (p.Lys576Glu)
NM_006950.3(SYN1):c.1729del (p.Ala577fs)
NM_006950.3(SYN1):c.1731C>T (p.Ala577=) rs2147912133
NM_006950.3(SYN1):c.1739C>T (p.Ala580Val) rs2057769764
NM_006950.3(SYN1):c.1754A>G (p.Gln585Arg)
NM_006950.3(SYN1):c.1759C>T (p.Arg587Cys)
NM_006950.3(SYN1):c.1764G>A (p.Gln588=)
NM_006950.3(SYN1):c.1769_1790dup (p.Gly599fs)
NM_006950.3(SYN1):c.176C>T (p.Pro59Leu)
NM_006950.3(SYN1):c.1782C>T (p.Pro594=) rs2147912100
NM_006950.3(SYN1):c.1785A>G (p.Pro595=)
NM_006950.3(SYN1):c.1791A>G (p.Pro597=)
NM_006950.3(SYN1):c.1794C>G (p.Ala598=) rs2057769499
NM_006950.3(SYN1):c.1794_1906del (p.Thr601fs)
NM_006950.3(SYN1):c.179C>T (p.Ala60Val)
NM_006950.3(SYN1):c.1815C>T (p.Ser605=) rs1452773137
NM_006950.3(SYN1):c.1820C>A (p.Ala607Glu) rs1339706473
NM_006950.3(SYN1):c.1820C>G (p.Ala607Gly)
NM_006950.3(SYN1):c.1821G>A (p.Ala607=)
NM_006950.3(SYN1):c.1821G>T (p.Ala607=)
NM_006950.3(SYN1):c.1822G>T (p.Gly608Cys)
NM_006950.3(SYN1):c.1834C>T (p.Arg612Cys)
NM_006950.3(SYN1):c.1837A>C (p.Thr613Pro) rs1603050300
NM_006950.3(SYN1):c.1851C>A (p.Thr617=) rs2147912062
NM_006950.3(SYN1):c.1855C>A (p.Gln619Lys) rs1160768934
NM_006950.3(SYN1):c.185C>T (p.Ser62Phe)
NM_006950.3(SYN1):c.1864C>T (p.Arg622Trp)
NM_006950.3(SYN1):c.1869C>T (p.Pro623=)
NM_006950.3(SYN1):c.187C>G (p.Pro63Ala)
NM_006950.3(SYN1):c.1884C>T (p.Pro628=) rs2147912043
NM_006950.3(SYN1):c.189G>A (p.Pro63=) rs371739376
NM_006950.3(SYN1):c.189G>T (p.Pro63=) rs371739376
NM_006950.3(SYN1):c.1905G>T (p.Gln635His)
NM_006950.3(SYN1):c.1920C>T (p.Pro640=)
NM_006950.3(SYN1):c.1941_1947dup (p.Ala650fs) rs2147912005
NM_006950.3(SYN1):c.1944C>T (p.Ala648=) rs1556857414
NM_006950.3(SYN1):c.1946C>T (p.Thr649Ile)
NM_006950.3(SYN1):c.1947C>A (p.Thr649=)
NM_006950.3(SYN1):c.1950C>T (p.Ala650=)
NM_006950.3(SYN1):c.1959G>A (p.Gly653=) rs2147911994
NM_006950.3(SYN1):c.1964C>T (p.Pro655Leu) rs1333198986
NM_006950.3(SYN1):c.1966C>T (p.Pro656Ser)
NM_006950.3(SYN1):c.1970A>C (p.His657Pro) rs992542097
NM_006950.3(SYN1):c.1972C>T (p.Pro658Ser) rs755832757
NM_006950.3(SYN1):c.1976A>G (p.Gln659Arg)
NM_006950.3(SYN1):c.1982+10C>A rs752321936
NM_006950.3(SYN1):c.1982+8_1982+20delinsT
NM_006950.3(SYN1):c.1982+9_1982+20del
NM_006950.3(SYN1):c.2023C>T (p.Pro675Ser) rs2057764675
NM_006950.3(SYN1):c.2026G>T (p.Ala676Ser)
NM_006950.3(SYN1):c.2028C>T (p.Ala676=) rs2057764630
NM_006950.3(SYN1):c.2043C>A (p.Ser681Arg)
NM_006950.3(SYN1):c.2044C>T (p.Leu682Phe) rs2147911481
NM_006950.3(SYN1):c.236C>T (p.Ser79Leu)
NM_006950.3(SYN1):c.248C>T (p.Ala83Val)
NM_006950.3(SYN1):c.248_264del (p.Ala83fs) rs2057941229
NM_006950.3(SYN1):c.249G>A (p.Ala83=) rs780753887
NM_006950.3(SYN1):c.250G>A (p.Val84Ile)
NM_006950.3(SYN1):c.255G>A (p.Lys85=) rs2147933415
NM_006950.3(SYN1):c.260C>A (p.Thr87Asn) rs2147933414
NM_006950.3(SYN1):c.272C>T (p.Ala91Val) rs2147933405
NM_006950.3(SYN1):c.276T>C (p.Ala92=)
NM_006950.3(SYN1):c.298G>A (p.Gly100Ser)
NM_006950.3(SYN1):c.2del (p.Met1fs) rs2057942403
NM_006950.3(SYN1):c.301G>T (p.Gly101Cys)
NM_006950.3(SYN1):c.303C>T (p.Gly101=) rs1603078601
NM_006950.3(SYN1):c.304G>A (p.Gly102Ser)
NM_006950.3(SYN1):c.310G>A (p.Gly104Arg) rs2057941013
NM_006950.3(SYN1):c.314del (p.Gly105fs) rs1603078587
NM_006950.3(SYN1):c.316G>A (p.Ala106Thr) rs794726957
NM_006950.3(SYN1):c.338C>G (p.Ser113Cys)
NM_006950.3(SYN1):c.350T>C (p.Leu117Pro) rs1556861785
NM_006950.3(SYN1):c.351G>T (p.Leu117=)
NM_006950.3(SYN1):c.361G>T (p.Glu121Ter) rs1183386473
NM_006950.3(SYN1):c.376T>A (p.Trp126Arg) rs1556861783
NM_006950.3(SYN1):c.377+19C>T
NM_006950.3(SYN1):c.377+4A>T rs2147933325
NM_006950.3(SYN1):c.377+5G>A
NM_006950.3(SYN1):c.377+6C>A
NM_006950.3(SYN1):c.377+6C>G rs1165500127
NM_006950.3(SYN1):c.378-14T>C
NM_006950.3(SYN1):c.378-16T>C
NM_006950.3(SYN1):c.378-18G>A
NM_006950.3(SYN1):c.378-19T>A
NM_006950.3(SYN1):c.378-1G>A rs2057900552
NM_006950.3(SYN1):c.381A>G (p.Ala127=)
NM_006950.3(SYN1):c.39del (p.Phe13fs)
NM_006950.3(SYN1):c.404T>C (p.Ile135Thr)
NM_006950.3(SYN1):c.405C>G (p.Ile135Met)
NM_006950.3(SYN1):c.42G>C (p.Met14Ile)
NM_006950.3(SYN1):c.432A>G (p.Glu144=) rs1142635
NM_006950.3(SYN1):c.433_434del (p.Gln145fs) rs2147928664
NM_006950.3(SYN1):c.435G>A (p.Gln145=) rs2147928661
NM_006950.3(SYN1):c.436-4C>G rs1603071933
NM_006950.3(SYN1):c.441A>G (p.Glu147=)
NM_006950.3(SYN1):c.462G>C (p.Val154=)
NM_006950.3(SYN1):c.472A>C (p.Asn158His) rs759485248
NM_006950.3(SYN1):c.47A>G (p.Asn16Ser) rs1289234549
NM_006950.3(SYN1):c.517_525del (p.Lys173_Val175del) rs2147928561
NM_006950.3(SYN1):c.523G>A (p.Val175Met)
NM_006950.3(SYN1):c.527+11G>T
NM_006950.3(SYN1):c.527+18A>G rs2147928548
NM_006950.3(SYN1):c.527+1G>T
NM_006950.3(SYN1):c.527+9A>T rs2147928550
NM_006950.3(SYN1):c.527G>A (p.Arg176Gln)
NM_006950.3(SYN1):c.528-12C>T
NM_006950.3(SYN1):c.528-2A>T rs1556860663
NM_006950.3(SYN1):c.539C>T (p.Pro180Leu) rs773013704
NM_006950.3(SYN1):c.548T>C (p.Val183Ala)
NM_006950.3(SYN1):c.54A>G (p.Pro18=)
NM_006950.3(SYN1):c.553A>G (p.Ile185Val)
NM_006950.3(SYN1):c.554_555insA (p.Arg186fs)
NM_006950.3(SYN1):c.55A>G (p.Asn19Asp)
NM_006950.3(SYN1):c.579A>G (p.Ala193=) rs1556860653
NM_006950.3(SYN1):c.57_63del (p.Asn19fs)
NM_006950.3(SYN1):c.581G>A (p.Arg194His) rs373152478
NM_006950.3(SYN1):c.592T>C (p.Tyr198His) rs2057893070
NM_006950.3(SYN1):c.604G>T (p.Val202Phe)
NM_006950.3(SYN1):c.614T>A (p.Leu205Gln) rs2057892972
NM_006950.3(SYN1):c.614_616dup (p.Leu205_Gln206insLeu)
NM_006950.3(SYN1):c.616C>T (p.Gln206Ter)
NM_006950.3(SYN1):c.619T>C (p.Tyr207His)
NM_006950.3(SYN1):c.635G>A (p.Ser212Asn) rs1556860638
NM_006950.3(SYN1):c.635G>T (p.Ser212Ile) rs1556860638
NM_006950.3(SYN1):c.645C>A (p.Ser215=) rs1299304892
NM_006950.3(SYN1):c.645C>T (p.Ser215=)
NM_006950.3(SYN1):c.659A>G (p.Tyr220Cys)
NM_006950.3(SYN1):c.684+13A>C
NM_006950.3(SYN1):c.684+16G>A
NM_006950.3(SYN1):c.684+17G>T
NM_006950.3(SYN1):c.684+5_684+8del
NM_006950.3(SYN1):c.685-11G>T
NM_006950.3(SYN1):c.685-3T>C rs2057892214
NM_006950.3(SYN1):c.685-4A>G rs2147927610
NM_006950.3(SYN1):c.700C>T (p.Arg234Ter) rs2147927599
NM_006950.3(SYN1):c.701G>A (p.Arg234Gln) rs2057892166
NM_006950.3(SYN1):c.707A>G (p.His236Arg)
NM_006950.3(SYN1):c.726A>G (p.Glu242=)
NM_006950.3(SYN1):c.744T>C (p.Asp248=)
NM_006950.3(SYN1):c.755A>T (p.Tyr252Phe) rs2057891950
NM_006950.3(SYN1):c.756C>T (p.Tyr252=) rs1556860614
NM_006950.3(SYN1):c.759C>G (p.Pro253=) rs2147927565
NM_006950.3(SYN1):c.759C>T (p.Pro253=) rs2147927565
NM_006950.3(SYN1):c.769G>T (p.Glu257Ter)
NM_006950.3(SYN1):c.774+3G>A rs2057891910
NM_006950.3(SYN1):c.774G>T (p.Met258Ile)
NM_006950.3(SYN1):c.79C>T (p.Arg27Cys) rs2057942233
NM_006950.3(SYN1):c.837+15G>A
NM_006950.3(SYN1):c.837+19T>C
NM_006950.3(SYN1):c.838-13C>T
NM_006950.3(SYN1):c.838-2A>G rs2147913419
NM_006950.3(SYN1):c.84G>A (p.Pro28=)
NM_006950.3(SYN1):c.860A>C (p.Asp287Ala) rs2147913414
NM_006950.3(SYN1):c.870C>T (p.Asp290=)
NM_006950.3(SYN1):c.873C>T (p.Ile291=)
NM_006950.3(SYN1):c.88C>G (p.Pro30Ala) rs2147933540
NM_006950.3(SYN1):c.891G>A (p.Leu297=) rs2147913391
NM_006950.3(SYN1):c.899C>T (p.Thr300Met)
NM_006950.3(SYN1):c.900G>A (p.Thr300=)
NM_006950.3(SYN1):c.90G>T (p.Pro30=) rs2147933536
NM_006950.3(SYN1):c.910G>A (p.Ala304Thr)
NM_006950.3(SYN1):c.913G>A (p.Glu305Lys)
NM_006950.3(SYN1):c.91C>T (p.Pro31Ser)
NM_006950.3(SYN1):c.924C>T (p.Ile308=)
NM_006950.3(SYN1):c.925G>A (p.Asp309Asn)
NM_006950.3(SYN1):c.945T>C (p.Arg315=)
NM_006950.3(SYN1):c.952A>C (p.Lys318Gln)
NM_006950.3(SYN1):c.953A>C (p.Lys318Thr) rs2057778186
NM_006950.3(SYN1):c.954G>T (p.Lys318Asn)
NM_006950.3(SYN1):c.956_964del (p.Ile319_Gln321del)
NM_006950.3(SYN1):c.968A>G (p.Tyr323Cys)
NM_006950.3(SYN1):c.975del (p.Tyr326fs)
NM_006950.3(SYN1):c.986C>A (p.Thr329Lys) rs2057777813
NM_006950.3(SYN1):c.986C>T (p.Thr329Met) rs2057777813
NM_006950.3(SYN1):c.98C>A (p.Pro33Gln)
NM_006950.3(SYN1):c.98_114del (p.Pro33fs)

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