ClinVar Miner

List of variants reported as benign for autosomal dominant Emery-Dreifuss muscular dystrophy by Invitae

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 256
Download table as spreadsheet
HGVS dbSNP
NM_015180.5(SYNE2):c.12001_12002inv (p.Trp4001Gln)
NM_033071.3(SYNE1):c.20650-3dupT rs755011653
NM_182914.2(SYNE2):c.10196G>A (p.Arg3399His) rs36039501
NM_182914.2(SYNE2):c.10269C>G (p.Ile3423Met) rs35920722
NM_182914.2(SYNE2):c.10510A>G (p.Thr3504Ala) rs190518140
NM_182914.2(SYNE2):c.10567A>C (p.Lys3523Gln) rs35203186
NM_182914.2(SYNE2):c.10582C>G (p.Leu3528Val) rs374649578
NM_182914.2(SYNE2):c.10835A>G (p.Gln3612Arg) rs78110192
NM_182914.2(SYNE2):c.11023-5C>G rs112833938
NM_182914.2(SYNE2):c.11379T>C (p.Leu3793=) rs149391344
NM_182914.2(SYNE2):c.11385G>A (p.Lys3795=) rs34954189
NM_182914.2(SYNE2):c.11671-4C>A rs193068394
NM_182914.2(SYNE2):c.11935C>G (p.Leu3979Val) rs76576553
NM_182914.2(SYNE2):c.12043T>C (p.Tyr4015His) rs75665958
NM_182914.2(SYNE2):c.12122G>A (p.Arg4041His) rs17101661
NM_182914.2(SYNE2):c.12190G>A (p.Val4064Ile) rs144164967
NM_182914.2(SYNE2):c.12378C>T (p.Ser4126=) rs36007735
NM_182914.2(SYNE2):c.12596A>G (p.Asn4199Ser) rs35223918
NM_182914.2(SYNE2):c.12612C>T (p.Gly4204=) rs114604397
NM_182914.2(SYNE2):c.12626T>C (p.Ile4209Thr) rs61747118
NM_182914.2(SYNE2):c.12771G>A (p.Val4257=)
NM_182914.2(SYNE2):c.12840+8T>C rs145218296
NM_182914.2(SYNE2):c.1296C>A (p.Ser432Arg) rs35554503
NM_182914.2(SYNE2):c.12984A>G (p.Lys4328=) rs151314114
NM_182914.2(SYNE2):c.13254C>A (p.Asn4418Lys) rs36021513
NM_182914.2(SYNE2):c.13266G>A (p.Gln4422=) rs34944385
NM_182914.2(SYNE2):c.13280+3A>G rs113145581
NM_182914.2(SYNE2):c.13423-7C>G rs7140414
NM_182914.2(SYNE2):c.13689C>T (p.Gly4563=) rs186567969
NM_182914.2(SYNE2):c.13707+10T>C rs61987277
NM_182914.2(SYNE2):c.13918-10T>C
NM_182914.2(SYNE2):c.13918-6T>C rs187859624
NM_182914.2(SYNE2):c.14057A>G (p.Glu4686Gly) rs10133691
NM_182914.2(SYNE2):c.14197C>A (p.Pro4733Thr) rs75568433
NM_182914.2(SYNE2):c.14430A>G (p.Thr4810=) rs34248042
NM_182914.2(SYNE2):c.14528T>A (p.Phe4843Tyr) rs141488398
NM_182914.2(SYNE2):c.14720C>T (p.Ala4907Val)
NM_182914.2(SYNE2):c.14734C>G (p.Pro4912Ala) rs17766354
NM_182914.2(SYNE2):c.14737G>A (p.Glu4913Lys) rs12881815
NM_182914.2(SYNE2):c.14776T>C (p.Leu4926=) rs8007874
NM_182914.2(SYNE2):c.1482G>A (p.Leu494=) rs117567094
NM_182914.2(SYNE2):c.14941T>C (p.Leu4981=)
NM_182914.2(SYNE2):c.15006C>T (p.Ser5002=) rs143686889
NM_182914.2(SYNE2):c.15256C>T (p.His5086Tyr) rs2039475
NM_182914.2(SYNE2):c.15794T>C (p.Val5265Ala) rs142660236
NM_182914.2(SYNE2):c.15822A>T (p.Ser5274=) rs184241655
NM_182914.2(SYNE2):c.16065C>A (p.Ile5355=)
NM_182914.2(SYNE2):c.16095-10G>A rs139126909
NM_182914.2(SYNE2):c.16305G>A (p.Leu5435=) rs116758464
NM_182914.2(SYNE2):c.16419C>T (p.His5473=) rs138209076
NM_182914.2(SYNE2):c.16420T>A (p.Ser5474Thr) rs114483901
NM_182914.2(SYNE2):c.16522T>A (p.Ser5508Thr) rs35190322
NM_182914.2(SYNE2):c.16591C>A (p.Pro5531Thr) rs145036293
NM_182914.2(SYNE2):c.165C>T (p.Ser55=)
NM_182914.2(SYNE2):c.16639G>A (p.Asp5547Asn) rs17179194
NM_182914.2(SYNE2):c.16722A>G (p.Gln5574=) rs17101704
NM_182914.2(SYNE2):c.16743G>A (p.Thr5581=) rs138769395
NM_182914.2(SYNE2):c.17388C>T (p.Pro5796=) rs35744699
NM_182914.2(SYNE2):c.17556+4T>C rs2297301
NM_182914.2(SYNE2):c.17561T>C (p.Leu5854Pro) rs117070973
NM_182914.2(SYNE2):c.18039-5T>A rs189611387
NM_182914.2(SYNE2):c.18603G>A (p.Arg6201=) rs141051652
NM_182914.2(SYNE2):c.18723+8C>T rs200853043
NM_182914.2(SYNE2):c.19185T>C (p.His6395=) rs146775592
NM_182914.2(SYNE2):c.19458C>T (p.Pro6486=) rs144593270
NM_182914.2(SYNE2):c.19581A>C (p.Lys6527Asn) rs141550472
NM_182914.2(SYNE2):c.19639A>G (p.Ile6547Val) rs45453691
NM_182914.2(SYNE2):c.19867C>T (p.Leu6623=) rs139826953
NM_182914.2(SYNE2):c.20062-119G>C rs1152588
NM_182914.2(SYNE2):c.20103G>A (p.Ala6701=) rs75079588
NM_182914.2(SYNE2):c.20117G>A (p.Arg6706Gln) rs35831865
NM_182914.2(SYNE2):c.20197G>A (p.Glu6733Lys) rs150172232
NM_182914.2(SYNE2):c.2026A>G (p.Lys676Glu) rs78191145
NM_182914.2(SYNE2):c.20286T>C (p.Cys6762=) rs77065534
NM_182914.2(SYNE2):c.20339G>A (p.Arg6780Gln) rs202240664
NM_182914.2(SYNE2):c.20382+9A>G rs116394628
NM_182914.2(SYNE2):c.20424G>A (p.Ser6808=) rs187841473
NM_182914.2(SYNE2):c.20497G>A (p.Glu6833Lys) rs58154675
NM_182914.2(SYNE2):c.20596C>T (p.Leu6866=) rs141474837
NM_182914.2(SYNE2):c.2070A>G (p.Leu690=) rs79037871
NM_182914.2(SYNE2):c.2190A>G (p.Thr730=) rs374751877
NM_182914.2(SYNE2):c.2409C>A (p.Ser803=) rs17101525
NM_182914.2(SYNE2):c.2487A>G (p.Lys829=)
NM_182914.2(SYNE2):c.2803T>C (p.Leu935=) rs114718315
NM_182914.2(SYNE2):c.2934A>G (p.Glu978=) rs34001379
NM_182914.2(SYNE2):c.3054A>C (p.Leu1018=) rs751740731
NM_182914.2(SYNE2):c.3326G>A (p.Ser1109Asn) rs150464227
NM_182914.2(SYNE2):c.3559A>C (p.Ile1187Leu) rs57259697
NM_182914.2(SYNE2):c.3990G>A (p.Ala1330=) rs374980509
NM_182914.2(SYNE2):c.4286T>C (p.Leu1429Pro) rs150573158
NM_182914.2(SYNE2):c.430C>G (p.Leu144Val) rs142000273
NM_182914.2(SYNE2):c.4521A>G (p.Gln1507=)
NM_182914.2(SYNE2):c.4536A>G (p.Thr1512=) rs11158524
NM_182914.2(SYNE2):c.4614A>G (p.Lys1538=) rs572672283
NM_182914.2(SYNE2):c.4785C>A (p.Asn1595Lys) rs199704293
NM_182914.2(SYNE2):c.4842C>T (p.Pro1614=)
NM_182914.2(SYNE2):c.5156T>C (p.Met1719Thr) rs73277546
NM_182914.2(SYNE2):c.5187T>A (p.His1729Gln) rs116597541
NM_182914.2(SYNE2):c.5395T>C (p.Leu1799=) rs186427714
NM_182914.2(SYNE2):c.5451A>G (p.Gln1817=)
NM_182914.2(SYNE2):c.5517A>T (p.Leu1839Phe) rs35883188
NM_182914.2(SYNE2):c.5534A>G (p.Lys1845Arg) rs76634907
NM_182914.2(SYNE2):c.6321C>T (p.Ser2107=) rs143410137
NM_182914.2(SYNE2):c.6604T>A (p.Leu2202Ile) rs571868188
NM_182914.2(SYNE2):c.6690C>T (p.His2230=) rs138272705
NM_182914.2(SYNE2):c.6714+3G>A rs142902034
NM_182914.2(SYNE2):c.6714+6G>T rs191541575
NM_182914.2(SYNE2):c.6880-5C>T rs187173455
NM_182914.2(SYNE2):c.7040C>A (p.Ala2347Glu) rs34625768
NM_182914.2(SYNE2):c.7075A>G (p.Ser2359Gly) rs7157465
NM_182914.2(SYNE2):c.7096T>C (p.Ser2366Pro) rs35444312
NM_182914.2(SYNE2):c.7124T>C (p.Leu2375Pro) rs111902869
NM_182914.2(SYNE2):c.7128A>G (p.Pro2376=) rs117423703
NM_182914.2(SYNE2):c.7162G>A (p.Glu2388Lys) rs200842904
NM_182914.2(SYNE2):c.7467G>C (p.Leu2489Phe) rs143031135
NM_182914.2(SYNE2):c.7469T>G (p.Val2490Gly) rs34393543
NM_182914.2(SYNE2):c.7606A>G (p.Met2536Val) rs201406395
NM_182914.2(SYNE2):c.7643+9A>G rs115809466
NM_182914.2(SYNE2):c.7690A>G (p.Ile2564Val) rs11628107
NM_182914.2(SYNE2):c.7898A>G (p.Asn2633Ser) rs190582637
NM_182914.2(SYNE2):c.8041G>A (p.Val2681Ile) rs150946074
NM_182914.2(SYNE2):c.8422C>T (p.Leu2808=) rs35960129
NM_182914.2(SYNE2):c.8597C>T (p.Thr2866Met) rs114508894
NM_182914.2(SYNE2):c.9023T>C (p.Ile3008Thr) rs115969845
NM_182914.2(SYNE2):c.9078A>T (p.Glu3026Asp) rs34843668
NM_182914.2(SYNE2):c.9347A>G (p.Lys3116Arg) rs138689053
NM_182914.2(SYNE2):c.9389A>G (p.Asn3130Ser) rs11847087
NM_182914.2(SYNE2):c.9396G>C (p.Lys3132Asn) rs566182360
NM_182914.2(SYNE2):c.9502A>G (p.Ile3168Val) rs193035848
NM_182914.2(SYNE2):c.990+10A>G rs145924910
NM_182914.3(SYNE2):c.15290_15292TTC[1] (p.Leu5098del) rs368230785
NM_182961.4(SYNE1):c.10022T>C (p.Val3341Ala) rs138693624
NM_182961.4(SYNE1):c.10056T>C (p.Ser3352=) rs140861713
NM_182961.4(SYNE1):c.10207G>A (p.Gly3403Ser) rs116758271
NM_182961.4(SYNE1):c.10281G>T (p.Thr3427=) rs147402839
NM_182961.4(SYNE1):c.10522T>C (p.Leu3508=) rs62426382
NM_182961.4(SYNE1):c.10557A>T (p.Ser3519=) rs73784326
NM_182961.4(SYNE1):c.10598G>A (p.Arg3533His) rs145911138
NM_182961.4(SYNE1):c.10827A>C (p.Gln3609His) rs79486252
NM_182961.4(SYNE1):c.11127A>G (p.Glu3709=) rs149260051
NM_182961.4(SYNE1):c.1113A>G (p.Pro371=) rs374376301
NM_182961.4(SYNE1):c.11187G>T (p.Lys3729Asn) rs143070183
NM_182961.4(SYNE1):c.11196T>C (p.Ala3732=) rs138528119
NM_182961.4(SYNE1):c.11238A>G (p.Lys3746=) rs149393972
NM_182961.4(SYNE1):c.11430G>A (p.Thr3810=) rs137919524
NM_182961.4(SYNE1):c.11541G>A (p.Met3847Ile) rs74463786
NM_182961.4(SYNE1):c.11621A>C (p.Lys3874Thr) rs13210127
NM_182961.4(SYNE1):c.12000G>A (p.Ala4000=) rs148493518
NM_182961.4(SYNE1):c.12057G>A (p.Ala4019=) rs144596829
NM_182961.4(SYNE1):c.12061T>C (p.Cys4021Arg) rs111449472
NM_182961.4(SYNE1):c.12138G>A (p.Gln4046=) rs60344647
NM_182961.4(SYNE1):c.12170C>T (p.Pro4057Leu) rs150179494
NM_182961.4(SYNE1):c.12362_12363delinsGT (p.Lys4121Ser) rs386707192
NM_182961.4(SYNE1):c.12411C>T (p.His4137=) rs751325537
NM_182961.4(SYNE1):c.12442G>C (p.Asp4148His) rs117501809
NM_182961.4(SYNE1):c.12565G>A (p.Val4189Met) rs148204741
NM_182961.4(SYNE1):c.12607G>A (p.Glu4203Lys) rs2130262
NM_182961.4(SYNE1):c.13101C>T (p.Ile4367=) rs140136749
NM_182961.4(SYNE1):c.13221C>T (p.Asp4407=) rs10499268
NM_182961.4(SYNE1):c.13636G>A (p.Val4546Ile) rs4870093
NM_182961.4(SYNE1):c.13863G>A (p.Thr4621=) rs112266645
NM_182961.4(SYNE1):c.13986G>A (p.Lys4662=) rs17082484
NM_182961.4(SYNE1):c.14107G>A (p.Asp4703Asn) rs116000545
NM_182961.4(SYNE1):c.14163C>T (p.Asp4721=) rs3734366
NM_182961.4(SYNE1):c.14769A>G (p.Glu4923=) rs141057568
NM_182961.4(SYNE1):c.14917C>T (p.Leu4973=) rs35085679
NM_182961.4(SYNE1):c.15313G>A (p.Asp5105Asn) rs35493783
NM_182961.4(SYNE1):c.15597C>G (p.Ala5199=) rs9383987
NM_182961.4(SYNE1):c.15657+5T>A rs199779021
NM_182961.4(SYNE1):c.156T>C (p.Asp52=) rs139156106
NM_182961.4(SYNE1):c.16038A>G (p.Leu5346=) rs192936944
NM_182961.4(SYNE1):c.16110C>A (p.His5370Gln) rs138277154
NM_182961.4(SYNE1):c.16129A>C (p.Met5377Leu) rs35987150
NM_182961.4(SYNE1):c.16237-3del rs752661566
NM_182961.4(SYNE1):c.16277C>T (p.Thr5426Met) rs2306914
NM_182961.4(SYNE1):c.16476A>G (p.Gln5492=) rs141380170
NM_182961.4(SYNE1):c.17203-6del rs55633181
NM_182961.4(SYNE1):c.17339G>A (p.Arg5780Gln) rs76160752
NM_182961.4(SYNE1):c.17418G>A (p.Thr5806=) rs17082422
NM_182961.4(SYNE1):c.17505C>T (p.Leu5835=) rs148731167
NM_182961.4(SYNE1):c.17797G>A (p.Ala5933Thr) rs113962905
NM_182961.4(SYNE1):c.1794A>C (p.Ser598=) rs141424852
NM_182961.4(SYNE1):c.18114G>A (p.Ala6038=) rs149923357
NM_182961.4(SYNE1):c.18185C>T (p.Ser6062Leu) rs139790539
NM_182961.4(SYNE1):c.1838C>T (p.Ser613Phe) rs140135976
NM_182961.4(SYNE1):c.1878A>G (p.Gln626=) rs62427038
NM_182961.4(SYNE1):c.18801C>T (p.Thr6267=) rs116007471
NM_182961.4(SYNE1):c.18870C>T (p.Ser6290=) rs138173087
NM_182961.4(SYNE1):c.18881A>T (p.Gln6294Leu) rs140090745
NM_182961.4(SYNE1):c.19534G>T (p.Ala6512Ser) rs149272010
NM_182961.4(SYNE1):c.1964A>G (p.Gln655Arg) rs9397509
NM_182961.4(SYNE1):c.19692+3G>A rs150304757
NM_182961.4(SYNE1):c.19698G>T (p.Met6566Ile) rs35654757
NM_182961.4(SYNE1):c.1983C>T (p.Asn661=) rs149670417
NM_182961.4(SYNE1):c.19989T>C (p.His6663=) rs61746395
NM_182961.4(SYNE1):c.19991C>T (p.Thr6664Ile) rs35079654
NM_182961.4(SYNE1):c.20142C>T (p.Ser6714=) rs201908045
NM_182961.4(SYNE1):c.20292T>C (p.Asp6764=) rs73619386
NM_182961.4(SYNE1):c.20571A>T (p.Ser6857=) rs34905593
NM_182961.4(SYNE1):c.20646G>A (p.Ser6882=) rs138628147
NM_182961.4(SYNE1):c.21330C>T (p.Thr7110=) rs75469773
NM_182961.4(SYNE1):c.21523-8T>G rs187773880
NM_182961.4(SYNE1):c.2177A>G (p.Glu726Gly) rs35297226
NM_182961.4(SYNE1):c.21781C>A (p.Arg7261=) rs138032057
NM_182961.4(SYNE1):c.21882C>A (p.Gly7294=) rs35106977
NM_182961.4(SYNE1):c.22137C>T (p.Asp7379=) rs148556501
NM_182961.4(SYNE1):c.2220G>A (p.Met740Ile) rs146001055
NM_182961.4(SYNE1):c.22281C>A (p.Ile7427=) rs139362680
NM_182961.4(SYNE1):c.22452A>G (p.Ser7484=) rs36044575
NM_182961.4(SYNE1):c.22473G>A (p.Leu7491=) rs34891041
NM_182961.4(SYNE1):c.22516A>G (p.Ser7506Gly) rs35763277
NM_182961.4(SYNE1):c.22809C>T (p.Leu7603=) rs34630198
NM_182961.4(SYNE1):c.23461-6A>C rs145098375
NM_182961.4(SYNE1):c.23743G>A (p.Asp7915Asn) rs76699382
NM_182961.4(SYNE1):c.2395G>A (p.Val799Ile) rs199670962
NM_182961.4(SYNE1):c.24225A>G (p.Ala8075=) rs910415
NM_182961.4(SYNE1):c.24349C>T (p.Arg8117Trp) rs144056525
NM_182961.4(SYNE1):c.24481A>C (p.Asn8161His) rs36215251
NM_182961.4(SYNE1):c.24827C>G (p.Ala8276Gly) rs142985368
NM_182961.4(SYNE1):c.24952C>T (p.Leu8318Phe) rs141716975
NM_182961.4(SYNE1):c.25146C>T (p.Ser8382=) rs151034170
NM_182961.4(SYNE1):c.2527C>T (p.Arg843Cys) rs34610829
NM_182961.4(SYNE1):c.26002-4A>G rs77220999
NM_182961.4(SYNE1):c.26209G>A (p.Gly8737Ser) rs2295191
NM_182961.4(SYNE1):c.26298A>G (p.Pro8766=) rs200880341
NM_182961.4(SYNE1):c.2697A>G (p.Arg899=) rs75817012
NM_182961.4(SYNE1):c.2995G>A (p.Glu999Lys) rs148346599
NM_182961.4(SYNE1):c.3120T>A (p.Thr1040=) rs147176678
NM_182961.4(SYNE1):c.3669+10T>C rs187598275
NM_182961.4(SYNE1):c.3804G>A (p.Leu1268=) rs139524103
NM_182961.4(SYNE1):c.3890C>T (p.Ala1297Val) rs35378260
NM_182961.4(SYNE1):c.3960A>G (p.Thr1320=) rs138705766
NM_182961.4(SYNE1):c.4031G>A (p.Arg1344Gln) rs144566713
NM_182961.4(SYNE1):c.4596C>T (p.Tyr1532=) rs138264334
NM_182961.4(SYNE1):c.4610G>A (p.Arg1537Gln) rs369775705
NM_182961.4(SYNE1):c.4757C>A (p.Thr1586Lys) rs77675624
NM_182961.4(SYNE1):c.5190T>A (p.Asp1730Glu) rs111250109
NM_182961.4(SYNE1):c.5341A>T (p.Ile1781Phe) rs141796889
NM_182961.4(SYNE1):c.5429C>T (p.Ala1810Val) rs76393834
NM_182961.4(SYNE1):c.582-9A>G rs200412221
NM_182961.4(SYNE1):c.6135T>G (p.Ile2045Met) rs116600265
NM_182961.4(SYNE1):c.6470A>G (p.Lys2157Arg) rs75989452
NM_182961.4(SYNE1):c.6889G>A (p.Gly2297Arg) rs117184249
NM_182961.4(SYNE1):c.7156A>G (p.Ile2386Val) rs147947903
NM_182961.4(SYNE1):c.7713-4T>C rs571742202
NM_182961.4(SYNE1):c.7854C>T (p.Ser2618=) rs79449810
NM_182961.4(SYNE1):c.8163C>T (p.Ser2721=) rs58905396
NM_182961.4(SYNE1):c.8164G>A (p.Val2722Ile) rs151091241
NM_182961.4(SYNE1):c.8177+9C>T rs56877632
NM_182961.4(SYNE1):c.8336T>G (p.Ile2779Ser) rs77121899
NM_182961.4(SYNE1):c.8400C>T (p.Leu2800=) rs114747836
NM_182961.4(SYNE1):c.9165C>A (p.Ser3055=) rs117020413
NM_182961.4(SYNE1):c.9542G>A (p.Ser3181Asn) rs140508714
NM_182961.4(SYNE1):c.9764C>T (p.Ser3255Leu) rs114954026
NM_182961.4(SYNE1):c.9890C>T (p.Thr3297Met) rs150912982
NM_182961.4(SYNE1):c.9954C>T (p.Ser3318=) rs73626656

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.