ClinVar Miner

List of variants in gene SYNE1 reported as uncertain significance for Emery-Dreifuss muscular dystrophy

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Total variants: 113
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HGVS dbSNP
NM_033071.3(SYNE1):c.-352C>T rs886061220
NM_033071.3(SYNE1):c.-361G>T rs886061221
NM_033071.3(SYNE1):c.10170A>G (p.Gln3390=) rs369227827
NM_033071.3(SYNE1):c.10323A>G (p.Leu3441=) rs886061205
NM_033071.3(SYNE1):c.10492G>A (p.Val3498Ile) rs886043016
NM_033071.3(SYNE1):c.10936A>C (p.Arg3646=) rs767172575
NM_033071.3(SYNE1):c.1140C>T (p.His380=) rs886061217
NM_033071.3(SYNE1):c.11843C>A (p.Ala3948Glu) rs756840607
NM_033071.3(SYNE1):c.11843C>T (p.Ala3948Val) rs756840607
NM_033071.3(SYNE1):c.11929T>G (p.Cys3977Gly) rs377526133
NM_033071.3(SYNE1):c.1197G>A (p.Val399=) rs776130961
NM_033071.3(SYNE1):c.12012+4G>A rs770448083
NM_033071.3(SYNE1):c.12142G>A (p.Glu4048Lys) rs148935596
NM_033071.3(SYNE1):c.12402G>A (p.Ser4134=) rs138650597
NM_033071.3(SYNE1):c.1283C>T (p.Ala428Val) rs150409035
NM_033071.3(SYNE1):c.13009G>A (p.Ala4337Thr) rs368709678
NM_033071.3(SYNE1):c.13010C>G (p.Ala4337Gly) rs886061204
NM_033071.3(SYNE1):c.1312G>T (p.Val438Phe) rs761198236
NM_033071.3(SYNE1):c.13204G>A (p.Glu4402Lys) rs554814659
NM_033071.3(SYNE1):c.13208G>A (p.Arg4403Gln) rs771898973
NM_033071.3(SYNE1):c.14317C>A (p.Pro4773Thr) rs747838657
NM_033071.3(SYNE1):c.14457G>C (p.Gln4819His) rs150266354
NM_033071.3(SYNE1):c.14962C>T (p.Leu4988=) rs763930147
NM_033071.3(SYNE1):c.14985C>T (p.Thr4995=) rs370314344
NM_033071.3(SYNE1):c.15195T>C (p.His5065=) rs776024178
NM_033071.3(SYNE1):c.15402C>T (p.Ile5134=) rs762262465
NM_033071.3(SYNE1):c.15739G>A (p.Val5247Met) rs886061203
NM_033071.3(SYNE1):c.16710G>A (p.Leu5570=) rs869025528
NM_033071.3(SYNE1):c.1674G>C (p.Lys558Asn) rs886061216
NM_033071.3(SYNE1):c.16801C>T (p.Arg5601Trp) rs780794124
NM_033071.3(SYNE1):c.17299A>C (p.Thr5767Pro) rs752135269
NM_033071.3(SYNE1):c.17470-11T>C rs759219567
NM_033071.3(SYNE1):c.18449C>T (p.Thr6150Ile) rs150335599
NM_033071.3(SYNE1):c.18451A>G (p.Thr6151Ala) rs886061202
NM_033071.3(SYNE1):c.18563T>C (p.Leu6188Pro) rs886061201
NM_033071.3(SYNE1):c.18801G>A (p.Leu6267=) rs762720357
NM_033071.3(SYNE1):c.19443C>T (p.Val6481=) rs773211579
NM_033071.3(SYNE1):c.20528A>C (p.His6843Pro) rs773155844
NM_033071.3(SYNE1):c.20816T>A (p.Val6939Glu) rs141275966
NM_033071.3(SYNE1):c.20940T>C (p.Ile6980=) rs886061200
NM_033071.3(SYNE1):c.21109G>A (p.Gly7037Ser) rs777227521
NM_033071.3(SYNE1):c.21301A>G (p.Asn7101Asp) rs886061199
NM_033071.3(SYNE1):c.21309G>C (p.Gln7103His) rs886061198
NM_033071.3(SYNE1):c.21570A>C (p.Arg7190=) rs886061197
NM_033071.3(SYNE1):c.21585G>C (p.Leu7195Phe) rs760237153
NM_033071.3(SYNE1):c.21767T>A (p.Leu7256His) rs756758310
NM_033071.3(SYNE1):c.2222C>G (p.Pro741Arg) rs886061215
NM_033071.3(SYNE1):c.22284G>C (p.Leu7428Phe) rs886061196
NM_033071.3(SYNE1):c.22833A>G (p.Ile7611Met) rs772452257
NM_033071.3(SYNE1):c.23122T>C (p.Leu7708=) rs200800604
NM_033071.3(SYNE1):c.2318T>C (p.Ile773Thr) rs886061214
NM_033071.3(SYNE1):c.23525T>C (p.Val7842Ala) rs746086003
NM_033071.3(SYNE1):c.23578-13C>T rs371245873
NM_033071.3(SYNE1):c.23619A>G (p.Ala7873=) rs886061194
NM_033071.3(SYNE1):c.23765+11A>T rs754355745
NM_033071.3(SYNE1):c.24039A>G (p.Glu8013=) rs886061193
NM_033071.3(SYNE1):c.24131C>G (p.Thr8044Ser) rs886061192
NM_033071.3(SYNE1):c.24137G>A (p.Arg8046Gln) rs777435137
NM_033071.3(SYNE1):c.24926G>A (p.Arg8309His) rs766534980
NM_033071.3(SYNE1):c.24976-6A>G rs201898019
NM_033071.3(SYNE1):c.24990C>A (p.Gly8330=) rs576598951
NM_033071.3(SYNE1):c.25299G>C (p.Gln8433His) rs886061191
NM_033071.3(SYNE1):c.2839G>A (p.Glu947Lys) rs757479164
NM_033071.3(SYNE1):c.3403G>C (p.Asp1135His) rs886061213
NM_033071.3(SYNE1):c.3454A>G (p.Thr1152Ala) rs148733093
NM_033071.3(SYNE1):c.3608C>T (p.Ser1203Phe) rs886061212
NM_033071.3(SYNE1):c.3691-14delT rs111322292
NM_033071.3(SYNE1):c.4029+15T>C rs368542446
NM_033071.3(SYNE1):c.424-10T>G rs886061219
NM_033071.3(SYNE1):c.4929C>T (p.Tyr1643=) rs771955377
NM_033071.3(SYNE1):c.508A>T (p.Thr170Ser) rs886061218
NM_033071.3(SYNE1):c.5091C>G (p.Val1697=) rs146789107
NM_033071.3(SYNE1):c.5841G>A (p.Gly1947=) rs773819434
NM_033071.3(SYNE1):c.6581A>G (p.Glu2194Gly) rs886061211
NM_033071.3(SYNE1):c.7324C>T (p.Arg2442Cys) rs370082646
NM_033071.3(SYNE1):c.7734-12_7734-11delinsTTTTTTTCT rs764324594
NM_033071.3(SYNE1):c.7734-18_7734-13dupTTTTTT rs756232172
NM_033071.3(SYNE1):c.7734-19_7734-13dupTTTTTTT rs756232172
NM_033071.3(SYNE1):c.7735G>A (p.Glu2579Lys) rs886061209
NM_033071.3(SYNE1):c.8017C>A (p.Gln2673Lys) rs577888458
NM_033071.3(SYNE1):c.8145G>C (p.Glu2715Asp) rs886061208
NM_033071.3(SYNE1):c.8360T>C (p.Leu2787Pro) rs757960938
NM_033071.3(SYNE1):c.8592T>C (p.His2864=) rs886061207
NM_033071.3(SYNE1):c.9767G>C (p.Ser3256Thr) rs886061206
NM_033071.3(SYNE1):c.9981G>A (p.Thr3327=) rs747731841
NM_182961.4(SYNE1):c.-49C>T rs373654060
NM_182961.4(SYNE1):c.10475G>A (p.Arg3492His) rs148522587
NM_182961.4(SYNE1):c.11362A>C (p.Lys3788Gln) rs774322624
NM_182961.4(SYNE1):c.13331G>A (p.Arg4444Gln) rs139075013
NM_182961.4(SYNE1):c.13922T>A (p.Leu4641His) rs199673397
NM_182961.4(SYNE1):c.15863G>C (p.Gly5288Ala) rs201313856
NM_182961.4(SYNE1):c.16025C>T (p.Thr5342Met) rs202105931
NM_182961.4(SYNE1):c.16182T>G (p.Ser5394=) rs146705789
NM_182961.4(SYNE1):c.16295G>A (p.Arg5432Gln) rs200812806
NM_182961.4(SYNE1):c.16831C>T (p.Arg5611Trp) rs369292604
NM_182961.4(SYNE1):c.18053A>G (p.Asn6018Ser) rs774683772
NM_182961.4(SYNE1):c.18090C>T (p.Ser6030=) rs146238726
NM_182961.4(SYNE1):c.18091G>A (p.Glu6031Lys) rs142229551
NM_182961.4(SYNE1):c.19481A>C (p.Lys6494Thr) rs763051329
NM_182961.4(SYNE1):c.21523-15dup rs761577958
NM_182961.4(SYNE1):c.22016C>A (p.Ala7339Asp) rs146907132
NM_182961.4(SYNE1):c.22783A>G (p.Ile7595Val) rs146320179
NM_182961.4(SYNE1):c.23138G>A (p.Arg7713His) rs750911961
NM_182961.4(SYNE1):c.23141G>A (p.Cys7714Tyr) rs886061195
NM_182961.4(SYNE1):c.23996G>A (p.Arg7999Gln) rs267600862
NM_182961.4(SYNE1):c.2569-8C>T rs376033376
NM_182961.4(SYNE1):c.26004T>C (p.Asp8668=) rs746159592
NM_182961.4(SYNE1):c.3879G>A (p.Gln1293=) rs754584363
NM_182961.4(SYNE1):c.5129C>A (p.Ala1710Asp) rs150702500
NM_182961.4(SYNE1):c.6969G>A (p.Val2323=) rs140986546
NM_182961.4(SYNE1):c.7029+15A>G rs757201043
NM_182961.4(SYNE1):c.92G>A (p.Arg31Gln) rs747634832
NM_182961.4(SYNE1):c.9604C>T (p.Arg3202Cys) rs749550071

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