ClinVar Miner

List of variants in gene SYNE1 reported as pathogenic

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Gene type:
ClinVar version:
Total variants: 205
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HGVS dbSNP gnomAD frequency
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys) rs119103248 0.00083
NM_182961.4(SYNE1):c.17905C>T (p.Gln5969Ter) rs967105970 0.00011
NM_182961.4(SYNE1):c.2818G>A (p.Glu940Lys) rs757479164 0.00005
NM_182961.4(SYNE1):c.15918-12A>G rs606231134 0.00004
NM_182961.4(SYNE1):c.14644C>T (p.Arg4882Ter) rs375077588 0.00002
NM_182961.4(SYNE1):c.21463C>T (p.Arg7155Ter) rs778445117 0.00002
NM_182961.4(SYNE1):c.91C>T (p.Arg31Ter) rs199708211 0.00002
NM_182961.4(SYNE1):c.9208C>T (p.Arg3070Ter) rs549779256 0.00002
NM_182961.4(SYNE1):c.10768C>T (p.Arg3590Ter) rs606231292 0.00001
NM_182961.4(SYNE1):c.13258C>T (p.Arg4420Ter) rs752224921 0.00001
NM_182961.4(SYNE1):c.14500C>T (p.Arg4834Ter) rs766129413 0.00001
NM_182961.4(SYNE1):c.17648C>A (p.Ser5883Ter) rs1300885934 0.00001
NM_182961.4(SYNE1):c.19564C>T (p.Gln6522Ter) rs781655232 0.00001
NM_182961.4(SYNE1):c.20263C>T (p.Arg6755Ter) rs780451185 0.00001
NM_182961.4(SYNE1):c.21148C>T (p.Arg7050Ter) rs763325410 0.00001
NM_182961.4(SYNE1):c.22734G>A (p.Trp7578Ter) rs780634258 0.00001
NM_182961.4(SYNE1):c.24139C>T (p.Arg8047Ter) rs1174316105 0.00001
NM_182961.4(SYNE1):c.24577C>T (p.Arg8193Ter) rs760715690 0.00001
NM_182961.4(SYNE1):c.24814C>T (p.Arg8272Ter) rs761433022 0.00001
NM_182961.4(SYNE1):c.25009C>T (p.Gln8337Ter) rs797046025 0.00001
NM_182961.4(SYNE1):c.352C>T (p.Arg118Ter) rs1473936270 0.00001
NM_182961.4(SYNE1):c.4561C>T (p.Arg1521Ter) rs771760718 0.00001
NM_182961.4(SYNE1):c.661C>T (p.Arg221Ter) rs750266004 0.00001
NM_182961.4(SYNE1):c.7161del (p.Lys2388fs) rs1220584620 0.00001
NM_182961.4(SYNE1):c.8695A>T (p.Arg2899Ter) rs119103243 0.00001
NM_182961.4(SYNE1):c.9625A>T (p.Lys3209Ter) rs780991031 0.00001
NC_000006.11:g.(?_152485278)_(152485480_?)del
NM_001347702.2(SYNE1):c.1473T>G (p.Tyr491Ter)
NM_182961.2(SYNE1):c.24979del rs1562984446
NM_182961.3(SYNE1):c.9973delG (p.Ala3325Leufs) rs1554550339
NM_182961.4(SYNE1):c.10145+1G>A rs1563391747
NM_182961.4(SYNE1):c.1021G>T (p.Glu341Ter) rs1203553546
NM_182961.4(SYNE1):c.10414C>T (p.Arg3472Ter) rs2096893099
NM_182961.4(SYNE1):c.10443+1G>T rs886042799
NM_182961.4(SYNE1):c.10492C>T (p.Gln3498Ter)
NM_182961.4(SYNE1):c.11205del (p.Ile3735fs) rs2154044401
NM_182961.4(SYNE1):c.1171A>T (p.Arg391Ter)
NM_182961.4(SYNE1):c.11909_11910del (p.Met3970fs) rs606231135
NM_182961.4(SYNE1):c.11971_11974del (p.Ile3991fs) rs1246610728
NM_182961.4(SYNE1):c.12121C>T (p.Arg4041Ter) rs886043963
NM_182961.4(SYNE1):c.12152G>A (p.Trp4051Ter) rs2154018964
NM_182961.4(SYNE1):c.1219_1220del (p.Leu407fs) rs1564367104
NM_182961.4(SYNE1):c.12247C>T (p.Gln4083Ter) rs1590463470
NM_182961.4(SYNE1):c.12361_12362delinsG (p.Lys4121fs)
NM_182961.4(SYNE1):c.12584del (p.Lys4195fs) rs886042380
NM_182961.4(SYNE1):c.12596T>A (p.Leu4199Ter)
NM_182961.4(SYNE1):c.12891_12901del (p.Asp4297fs)
NM_182961.4(SYNE1):c.13021_13022del (p.Thr4341fs)
NM_182961.4(SYNE1):c.13299del (p.His4433fs) rs1563130387
NM_182961.4(SYNE1):c.1369del (p.Asp457fs) rs1554768245
NM_182961.4(SYNE1):c.13861dup (p.Thr4621fs) rs1563123183
NM_182961.4(SYNE1):c.13948C>T (p.Arg4650Ter) rs866163858
NM_182961.4(SYNE1):c.13956_13968del (p.Phe4652fs) rs2153971833
NM_182961.4(SYNE1):c.14204del (p.Gln4735fs) rs1764145184
NM_182961.4(SYNE1):c.14212G>T (p.Glu4738Ter) rs1563118316
NM_182961.4(SYNE1):c.14278del (p.His4760fs) rs2153970781
NM_182961.4(SYNE1):c.14290C>T (p.Arg4764Ter)
NM_182961.4(SYNE1):c.14673del (p.Glu4892fs)
NM_182961.4(SYNE1):c.14813T>A (p.Leu4938Ter) rs2153969039
NM_182961.4(SYNE1):c.15049C>T (p.Gln5017Ter) rs1563088209
NM_182961.4(SYNE1):c.15280del (p.Asp5094fs)
NM_182961.4(SYNE1):c.15304C>T (p.Gln5102Ter) rs1270730854
NM_182961.4(SYNE1):c.15567G>A (p.Trp5189Ter) rs1554451078
NM_182961.4(SYNE1):c.15586C>T (p.Arg5196Ter)
NM_182961.4(SYNE1):c.1562C>G (p.Ser521Ter) rs1593379577
NM_182961.4(SYNE1):c.15681_15684del (p.Asp5228fs) rs1291249200
NM_182961.4(SYNE1):c.15973C>T (p.Arg5325Ter) rs781354327
NM_182961.4(SYNE1):c.16085_16092del (p.Ile5362fs) rs1554440887
NM_182961.4(SYNE1):c.16111C>T (p.Arg5371Ter) rs772587027
NM_182961.4(SYNE1):c.16155C>G (p.Tyr5385Ter)
NM_182961.4(SYNE1):c.16228C>T (p.Arg5410Ter) rs761432453
NM_182961.4(SYNE1):c.16390-2A>C rs759460806
NM_182961.4(SYNE1):c.16390-2A>G rs759460806
NM_182961.4(SYNE1):c.16421C>A (p.Ser5474Ter) rs797046024
NM_182961.4(SYNE1):c.17215C>T (p.Gln5739Ter) rs746328978
NM_182961.4(SYNE1):c.17229T>G (p.Tyr5743Ter) rs377344899
NM_182961.4(SYNE1):c.17284G>T (p.Glu5762Ter)
NM_182961.4(SYNE1):c.17312_17313del (p.Ile5771fs)
NM_182961.4(SYNE1):c.17628_17643del (p.Pro5877fs) rs2153809530
NM_182961.4(SYNE1):c.17713G>T (p.Glu5905Ter)
NM_182961.4(SYNE1):c.17801del (p.Thr5934fs)
NM_182961.4(SYNE1):c.17816_17820del (p.Asp5939fs) rs794727986
NM_182961.4(SYNE1):c.17872_17875del (p.Leu5958fs) rs2153783491
NM_182961.4(SYNE1):c.18012+1G>T rs1562842409
NM_182961.4(SYNE1):c.18141_18144del (p.Thr6048fs) rs2153732048
NM_182961.4(SYNE1):c.18431C>G (p.Ser6144Ter) rs2153709458
NM_182961.4(SYNE1):c.18682C>T (p.Gln6228Ter) rs910956017
NM_182961.4(SYNE1):c.18715C>T (p.Gln6239Ter) rs1562643321
NM_182961.4(SYNE1):c.18740_18741del (p.Leu6247fs) rs886042657
NM_182961.4(SYNE1):c.18940C>T (p.Gln6314Ter)
NM_182961.4(SYNE1):c.18948dup (p.Leu6317fs)
NM_182961.4(SYNE1):c.18955C>T (p.Gln6319Ter)
NM_182961.4(SYNE1):c.19046_19048delinsGA (p.Ser6349_Ala6350delinsTer) rs2153628887
NM_182961.4(SYNE1):c.1912C>T (p.Gln638Ter) rs1554756035
NM_182961.4(SYNE1):c.19179G>A (p.Trp6393Ter)
NM_182961.4(SYNE1):c.19223T>A (p.Leu6408Ter) rs758337239
NM_182961.4(SYNE1):c.1941dup (p.Arg648fs) rs775516009
NM_182961.4(SYNE1):c.19423C>T (p.Arg6475Ter) rs1258745040
NM_182961.4(SYNE1):c.1942C>T (p.Arg648Ter)
NM_182961.4(SYNE1):c.19444del (p.Arg6482fs) rs2153619687
NM_182961.4(SYNE1):c.19514dup (p.Tyr6505Ter) rs886043012
NM_182961.4(SYNE1):c.19893+1G>T rs1191629465
NM_182961.4(SYNE1):c.19899C>G (p.Tyr6633Ter) rs1057520134
NM_182961.4(SYNE1):c.20006dup (p.Ala6670fs) rs1385280819
NM_182961.4(SYNE1):c.20072G>A (p.Trp6691Ter) rs766499430
NM_182961.4(SYNE1):c.20179del (p.Asp6727fs) rs2153537904
NM_182961.4(SYNE1):c.20196C>G (p.Tyr6732Ter)
NM_182961.4(SYNE1):c.20296G>T (p.Glu6766Ter)
NM_182961.4(SYNE1):c.20970del (p.Asp6991fs) rs1554247806
NM_182961.4(SYNE1):c.21009G>A (p.Trp7003Ter)
NM_182961.4(SYNE1):c.21052G>T (p.Glu7018Ter) rs1554246434
NM_182961.4(SYNE1):c.21072G>A (p.Trp7024Ter)
NM_182961.4(SYNE1):c.21732C>A (p.Tyr7244Ter) rs1554226673
NM_182961.4(SYNE1):c.21741C>A (p.Tyr7247Ter) rs1269308421
NM_182961.4(SYNE1):c.21781C>T (p.Arg7261Ter) rs138032057
NM_182961.4(SYNE1):c.21819del (p.Asp7273fs)
NM_182961.4(SYNE1):c.21934C>T (p.Gln7312Ter) rs886042421
NM_182961.4(SYNE1):c.21975_21976delinsAT (p.Asp7325_Gln7326delinsGluTer)
NM_182961.4(SYNE1):c.22369C>T (p.Gln7457Ter) rs119103245
NM_182961.4(SYNE1):c.22408G>T (p.Glu7470Ter) rs1554573328
NM_182961.4(SYNE1):c.225+1del rs2154353746
NM_182961.4(SYNE1):c.22709_22763del (p.Glu7570fs) rs1554558620
NM_182961.4(SYNE1):c.22930C>T (p.Gln7644Ter) rs2076486420
NM_182961.4(SYNE1):c.23001dup (p.Leu7668fs) rs1554553667
NM_182961.4(SYNE1):c.23020-1G>A rs1554544827
NM_182961.4(SYNE1):c.23071_23099del (p.Thr7691fs) rs886043645
NM_182961.4(SYNE1):c.23131C>T (p.Gln7711Ter) rs119103244
NM_182961.4(SYNE1):c.23283G>A (p.Trp7761Ter)
NM_182961.4(SYNE1):c.23461-1G>A rs1586909309
NM_182961.4(SYNE1):c.23492del (p.Glu7831fs) rs1554491478
NM_182961.4(SYNE1):c.23524C>T (p.Arg7842Ter) rs775935265
NM_182961.4(SYNE1):c.23869del (p.Cys7957fs)
NM_182961.4(SYNE1):c.23979-2A>G rs1362058277
NM_182961.4(SYNE1):c.24001_24002del (p.Trp8001fs)
NM_182961.4(SYNE1):c.24118A>T (p.Lys8040Ter)
NM_182961.4(SYNE1):c.24127G>T (p.Glu8043Ter) rs1057520552
NM_182961.4(SYNE1):c.24221C>G (p.Ser8074Ter) rs1586296730
NM_182961.4(SYNE1):c.24284G>A (p.Arg8095His) rs119103246
NM_182961.4(SYNE1):c.24313-2A>G rs1586285494
NM_182961.4(SYNE1):c.24369G>A (p.Trp8123Ter) rs2152915773
NM_182961.4(SYNE1):c.24537del (p.Leu8180fs)
NM_182961.4(SYNE1):c.24585C>A (p.Tyr8195Ter)
NM_182961.4(SYNE1):c.24977-13_24996del
NM_182961.4(SYNE1):c.25006C>T (p.Arg8336Ter)
NM_182961.4(SYNE1):c.25119+1G>A rs1164612098
NM_182961.4(SYNE1):c.25258C>T (p.Arg8420Ter)
NM_182961.4(SYNE1):c.25326G>A (p.Trp8442Ter) rs759939544
NM_182961.4(SYNE1):c.25359G>A (p.Trp8453Ter)
NM_182961.4(SYNE1):c.2536C>T (p.Gln846Ter) rs2098713648
NM_182961.4(SYNE1):c.253C>T (p.Arg85Ter) rs768958602
NM_182961.4(SYNE1):c.25816C>T (p.Gln8606Ter)
NM_182961.4(SYNE1):c.2992C>T (p.Gln998Ter) rs2154254291
NM_182961.4(SYNE1):c.3023G>A (p.Trp1008Ter) rs1564136499
NM_182961.4(SYNE1):c.3130C>T (p.Arg1044Ter) rs757719808
NM_182961.4(SYNE1):c.3173_3176del (p.Ile1058fs)
NM_182961.4(SYNE1):c.3266del (p.Pro1089fs) rs1442714301
NM_182961.4(SYNE1):c.3499_3500del (p.Ala1166_Val1167insTer) rs1554721227
NM_182961.4(SYNE1):c.3641_3651del (p.Phe1214fs)
NM_182961.4(SYNE1):c.3769del (p.Glu1257fs) rs2154239396
NM_182961.4(SYNE1):c.3842del (p.Lys1281fs) rs1554709875
NM_182961.4(SYNE1):c.4044_4047del (p.Asn1348fs) rs2098527248
NM_182961.4(SYNE1):c.4327del (p.Met1443fs)
NM_182961.4(SYNE1):c.4372_4373del (p.Leu1458fs) rs794727577
NM_182961.4(SYNE1):c.4513G>T (p.Glu1505Ter) rs757744079
NM_182961.4(SYNE1):c.4534C>T (p.Gln1512Ter) rs988770583
NM_182961.4(SYNE1):c.4609C>T (p.Arg1537Ter) rs983431074
NM_182961.4(SYNE1):c.482_483del (p.Ser160_Ser161insTer) rs1554829141
NM_182961.4(SYNE1):c.4908C>A (p.Tyr1636Ter) rs771955377
NM_182961.4(SYNE1):c.4939C>T (p.Gln1647Ter) rs1554681651
NM_182961.4(SYNE1):c.4975_4976+8del rs1592490234
NM_182961.4(SYNE1):c.5098C>T (p.Gln1700Ter) rs1563941569
NM_182961.4(SYNE1):c.5161G>T (p.Glu1721Ter) rs1554676394
NM_182961.4(SYNE1):c.5237G>A (p.Trp1746Ter) rs2154194664
NM_182961.4(SYNE1):c.5246_5256del (p.Leu1749fs)
NM_182961.4(SYNE1):c.551T>A (p.Leu184Ter) rs1466752822
NM_182961.4(SYNE1):c.5525dup (p.Gln1843fs) rs2154182611
NM_182961.4(SYNE1):c.5594_5597del (p.Leu1865fs) rs2154182475
NM_182961.4(SYNE1):c.560G>A (p.Trp187Ter)
NM_182961.4(SYNE1):c.5639_5652del (p.Leu1880fs)
NM_182961.4(SYNE1):c.5895del (p.Leu1966fs) rs2098158268
NM_182961.4(SYNE1):c.6050+1G>A
NM_182961.4(SYNE1):c.6226G>T (p.Glu2076Ter) rs2098101022
NM_182961.4(SYNE1):c.6376del (p.Ser2126fs) rs2154170060
NM_182961.4(SYNE1):c.639del (p.His214fs) rs1412791793
NM_182961.4(SYNE1):c.6628G>T (p.Glu2210Ter) rs1417491327
NM_182961.4(SYNE1):c.67+1G>A rs1213042460
NM_182961.4(SYNE1):c.67+1G>T rs1213042460
NM_182961.4(SYNE1):c.6724-1G>A rs2154157186
NM_182961.4(SYNE1):c.6868G>T (p.Glu2290Ter) rs2154151091
NM_182961.4(SYNE1):c.6877del (p.Glu2293fs) rs797046026
NM_182961.4(SYNE1):c.706C>T (p.Arg236Ter) rs2154331501
NM_182961.4(SYNE1):c.7085dup (p.Asn2362fs) rs2154147676
NM_182961.4(SYNE1):c.7402C>T (p.Gln2468Ter)
NM_182961.4(SYNE1):c.7691T>A (p.Leu2564Ter)
NM_182961.4(SYNE1):c.7911G>A (p.Trp2637Ter) rs2154133792
NM_182961.4(SYNE1):c.8068C>T (p.Gln2690Ter)
NM_182961.4(SYNE1):c.8287C>T (p.Gln2763Ter) rs946657984
NM_182961.4(SYNE1):c.8789G>A (p.Trp2930Ter) rs2154115529
NM_182961.4(SYNE1):c.8866C>T (p.Gln2956Ter) rs886042954
NM_182961.4(SYNE1):c.8885del (p.Val2962fs) rs750544827
NM_182961.4(SYNE1):c.8890C>T (p.Gln2964Ter) rs1554588688
NM_182961.4(SYNE1):c.9082C>T (p.Arg3028Ter) rs369163343
NM_182961.4(SYNE1):c.9319del (p.Ile3107fs)
NM_182961.4(SYNE1):c.99del (p.Phe33fs)
NM_182961.4(SYNE1):c.[20263C>T;8889del]

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