ClinVar Miner

List of variants reported as uncertain significance for Emery-Dreifuss muscular dystrophy 5, autosomal dominant by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 147
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HGVS dbSNP gnomAD frequency
NM_182914.3(SYNE2):c.-169C>T rs886050575 0.00138
NM_182914.3(SYNE2):c.*315C>T rs183982306 0.00034
NM_182914.3(SYNE2):c.*807G>A rs755864712 0.00018
NM_182914.3(SYNE2):c.-128A>T rs886050576 0.00013
NM_182914.3(SYNE2):c.15031A>G (p.Ile5011Val) rs201269146 0.00011
NM_182914.3(SYNE2):c.16700C>T (p.Thr5567Met) rs527368157 0.00009
NM_182914.3(SYNE2):c.16905+4A>C rs369093036 0.00008
NM_182914.3(SYNE2):c.17524G>A (p.Glu5842Lys) rs769564739 0.00006
NM_182914.3(SYNE2):c.303A>G (p.Leu101=) rs371277498 0.00006
NM_182914.3(SYNE2):c.12547C>T (p.Pro4183Ser) rs751766809 0.00004
NM_182914.3(SYNE2):c.13917+10C>T rs760288753 0.00004
NM_182914.3(SYNE2):c.15028A>G (p.Ser5010Gly) rs754937863 0.00004
NM_182914.3(SYNE2):c.1844T>C (p.Phe615Ser) rs369877790 0.00004
NM_182914.3(SYNE2):c.2023A>G (p.Ile675Val) rs199854951 0.00004
NM_182914.3(SYNE2):c.*305G>T rs886050605 0.00003
NM_182914.3(SYNE2):c.10164G>A (p.Ser3388=) rs772208833 0.00003
NM_182914.3(SYNE2):c.13524G>C (p.Leu4508=) rs373702093 0.00003
NM_182914.3(SYNE2):c.14225C>T (p.Ala4742Val) rs373034895 0.00003
NM_182914.3(SYNE2):c.16094+4T>A rs769120290 0.00003
NM_182914.3(SYNE2):c.18104G>A (p.Arg6035His) rs963291095 0.00003
NM_182914.3(SYNE2):c.18963G>T (p.Leu6321=) rs757232346 0.00003
NM_182914.3(SYNE2):c.20039G>A (p.Arg6680Gln) rs761684738 0.00003
NM_182914.3(SYNE2):c.2558C>G (p.Ser853Cys) rs763133096 0.00003
NM_182914.3(SYNE2):c.6329C>T (p.Pro2110Leu) rs770940744 0.00003
NM_182914.3(SYNE2):c.6880-4G>A rs776756586 0.00003
NM_182914.3(SYNE2):c.1105G>A (p.Ala369Thr) rs746878775 0.00002
NM_182914.3(SYNE2):c.11906G>A (p.Arg3969Gln) rs563332131 0.00002
NM_182914.3(SYNE2):c.1195C>A (p.Leu399Ile) rs751800008 0.00002
NM_182914.3(SYNE2):c.12108+3A>G rs751551602 0.00002
NM_182914.3(SYNE2):c.12942G>A (p.Ala4314=) rs762957203 0.00002
NM_182914.3(SYNE2):c.13159-3C>T rs1277619996 0.00002
NM_182914.3(SYNE2):c.16901A>G (p.Tyr5634Cys) rs747214483 0.00002
NM_182914.3(SYNE2):c.17691A>G (p.Gln5897=) rs971473774 0.00002
NM_182914.3(SYNE2):c.18385A>G (p.Met6129Val) rs766731181 0.00002
NM_182914.3(SYNE2):c.18660C>T (p.His6220=) rs757875136 0.00002
NM_182914.3(SYNE2):c.2646+6A>T rs768967034 0.00002
NM_182914.3(SYNE2):c.4931C>T (p.Ala1644Val) rs771776215 0.00002
NM_182914.3(SYNE2):c.8991G>A (p.Gln2997=) rs773209564 0.00002
NM_182914.3(SYNE2):c.*372T>C rs964393717 0.00001
NM_182914.3(SYNE2):c.*489C>A rs886050607 0.00001
NM_182914.3(SYNE2):c.*734T>A rs886050610 0.00001
NM_182914.3(SYNE2):c.-107G>A rs886050577 0.00001
NM_182914.3(SYNE2):c.10275A>C (p.Arg3425Ser) rs886285721 0.00001
NM_182914.3(SYNE2):c.10802A>G (p.Gln3601Arg) rs759503520 0.00001
NM_182914.3(SYNE2):c.11468A>G (p.His3823Arg) rs745526712 0.00001
NM_182914.3(SYNE2):c.11956G>A (p.Glu3986Lys) rs779441612 0.00001
NM_182914.3(SYNE2):c.12368C>G (p.Ser4123Cys) rs759668362 0.00001
NM_182914.3(SYNE2):c.12739G>A (p.Glu4247Lys) rs886050590 0.00001
NM_182914.3(SYNE2):c.13622G>A (p.Ser4541Asn) rs375241792 0.00001
NM_182914.3(SYNE2):c.13630C>T (p.Leu4544Phe) rs368105920 0.00001
NM_182914.3(SYNE2):c.14110G>T (p.Ala4704Ser) rs886050592 0.00001
NM_182914.3(SYNE2):c.16184G>A (p.Gly5395Asp) rs775698210 0.00001
NM_182914.3(SYNE2):c.16605+10A>G rs761193543 0.00001
NM_182914.3(SYNE2):c.16854G>A (p.Val5618=) rs1490325276 0.00001
NM_182914.3(SYNE2):c.17115C>T (p.Phe5705=) rs1450190172 0.00001
NM_182914.3(SYNE2):c.17431-3T>C rs886050595 0.00001
NM_182914.3(SYNE2):c.17832G>A (p.Ala5944=) rs886050596 0.00001
NM_182914.3(SYNE2):c.18015T>C (p.His6005=) rs1323946751 0.00001
NM_182914.3(SYNE2):c.18631A>G (p.Thr6211Ala) rs759557576 0.00001
NM_182914.3(SYNE2):c.20245A>T (p.Ile6749Phe) rs886050599 0.00001
NM_182914.3(SYNE2):c.20303A>C (p.Lys6768Thr) rs775768707 0.00001
NM_182914.3(SYNE2):c.20381A>G (p.Gln6794Arg) rs751565440 0.00001
NM_182914.3(SYNE2):c.2314-9T>C rs1351046607 0.00001
NM_182914.3(SYNE2):c.3102C>T (p.Ser1034=) rs886050580 0.00001
NM_182914.3(SYNE2):c.3272T>C (p.Leu1091Pro) rs2096727951 0.00001
NM_182914.3(SYNE2):c.3550G>A (p.Val1184Met) rs377084463 0.00001
NM_182914.3(SYNE2):c.4222A>G (p.Ile1408Val) rs755316066 0.00001
NM_182914.3(SYNE2):c.4523A>G (p.Gln1508Arg) rs374305796 0.00001
NM_182914.3(SYNE2):c.5284G>A (p.Gly1762Arg) rs754809587 0.00001
NM_182914.3(SYNE2):c.5801G>A (p.Arg1934Gln) rs765830189 0.00001
NM_182914.3(SYNE2):c.5835A>G (p.Leu1945=) rs766666230 0.00001
NM_182914.3(SYNE2):c.6058G>C (p.Asp2020His) rs772510663 0.00001
NM_182914.3(SYNE2):c.9618T>C (p.Ile3206=) rs374756957 0.00001
NM_182914.3(SYNE2):c.9733G>T (p.Asp3245Tyr) rs780736831 0.00001
NM_182914.3(SYNE2):c.9943G>A (p.Glu3315Lys) rs372982837 0.00001
NM_182914.2(SYNE2):c.-209A>T rs886050574
NM_182914.3(SYNE2):c.*145C>A rs886050602
NM_182914.3(SYNE2):c.*149G>C rs886050603
NM_182914.3(SYNE2):c.*219T>G rs886050604
NM_182914.3(SYNE2):c.*359A>C rs886050606
NM_182914.3(SYNE2):c.*521A>G rs2098717089
NM_182914.3(SYNE2):c.*574A>G rs954643801
NM_182914.3(SYNE2):c.*695T>G rs886050608
NM_182914.3(SYNE2):c.*732G>A rs886050609
NM_182914.3(SYNE2):c.*819G>A rs1300953935
NM_182914.3(SYNE2):c.*820T>G rs941392635
NM_182914.3(SYNE2):c.*824G>A rs2098718315
NM_182914.3(SYNE2):c.-149G>A rs926052381
NM_182914.3(SYNE2):c.-52G>A rs1393089319
NM_182914.3(SYNE2):c.10378T>C (p.Trp3460Arg) rs1369723578
NM_182914.3(SYNE2):c.10881C>T (p.Ile3627=) rs750125057
NM_182914.3(SYNE2):c.11016T>C (p.Asp3672=) rs886050584
NM_182914.3(SYNE2):c.11023-14T>C rs2097488518
NM_182914.3(SYNE2):c.114G>A (p.Thr38=) rs369020126
NM_182914.3(SYNE2):c.11652G>T (p.Gln3884His) rs2097575346
NM_182914.3(SYNE2):c.11993C>T (p.Thr3998Ile) rs886050585
NM_182914.3(SYNE2):c.12064G>A (p.Glu4022Lys) rs886050586
NM_182914.3(SYNE2):c.12066A>G (p.Glu4022=) rs755552590
NM_182914.3(SYNE2):c.12125T>C (p.Met4042Thr) rs2097691016
NM_182914.3(SYNE2):c.12311A>C (p.Asn4104Thr) rs886050587
NM_182914.3(SYNE2):c.12610G>T (p.Gly4204Cys) rs886050588
NM_182914.3(SYNE2):c.12637A>C (p.Thr4213Pro) rs886050589
NM_182914.3(SYNE2):c.12840+12A>G rs886050591
NM_182914.3(SYNE2):c.13612C>T (p.Leu4538=) rs775368857
NM_182914.3(SYNE2):c.13906C>T (p.Arg4636Cys) rs767673156
NM_182914.3(SYNE2):c.15233A>C (p.Gln5078Pro) rs751092033
NM_182914.3(SYNE2):c.15263C>A (p.Pro5088Gln) rs779934215
NM_182914.3(SYNE2):c.15441G>T (p.Met5147Ile) rs2098161023
NM_182914.3(SYNE2):c.16300G>A (p.Glu5434Lys) rs886050594
NM_182914.3(SYNE2):c.16524T>C (p.Ser5508=) rs2098368173
NM_182914.3(SYNE2):c.16605+9A>G rs775937516
NM_182914.3(SYNE2):c.16845A>G (p.Ala5615=) rs1056275153
NM_182914.3(SYNE2):c.17001-8T>C rs768210935
NM_182914.3(SYNE2):c.17328T>C (p.Thr5776=) rs2098427126
NM_182914.3(SYNE2):c.17672T>C (p.Ile5891Thr) rs1208826730
NM_182914.3(SYNE2):c.17784G>A (p.Glu5928=) rs572217007
NM_182914.3(SYNE2):c.18121A>G (p.Ile6041Val) rs886050597
NM_182914.3(SYNE2):c.1837-11G>A rs770407054
NM_182914.3(SYNE2):c.18541-9G>A rs886050598
NM_182914.3(SYNE2):c.1867C>G (p.Leu623Val) rs886050579
NM_182914.3(SYNE2):c.18691A>G (p.Arg6231Gly) rs2098632167
NM_182914.3(SYNE2):c.19402+10C>T rs759119344
NM_182914.3(SYNE2):c.1996C>A (p.Gln666Lys) rs1488229138
NM_182914.3(SYNE2):c.20038C>G (p.Arg6680Gly) rs753598628
NM_182914.3(SYNE2):c.20068C>T (p.His6690Tyr) rs908836747
NM_182914.3(SYNE2):c.20383-15G>T rs886050600
NM_182914.3(SYNE2):c.20551C>T (p.Leu6851Phe) rs564532190
NM_182914.3(SYNE2):c.20562G>T (p.Val6854=) rs755188684
NM_182914.3(SYNE2):c.20721A>G (p.Thr6907=) rs886050601
NM_182914.3(SYNE2):c.287A>G (p.His96Arg) rs2095922493
NM_182914.3(SYNE2):c.3715C>G (p.Leu1239Val) rs886050581
NM_182914.3(SYNE2):c.4190C>A (p.Thr1397Asn) rs760136466
NM_182914.3(SYNE2):c.4235A>G (p.Glu1412Gly) rs1421966833
NM_182914.3(SYNE2):c.4375A>C (p.Thr1459Pro) rs1482814444
NM_182914.3(SYNE2):c.4398-11T>A rs2096801796
NM_182914.3(SYNE2):c.4728+9A>G rs2096831894
NM_182914.3(SYNE2):c.5696A>G (p.Lys1899Arg) rs886050582
NM_182914.3(SYNE2):c.5895A>G (p.Lys1965=) rs2096966269
NM_182914.3(SYNE2):c.6247A>T (p.Ile2083Phe) rs200739844
NM_182914.3(SYNE2):c.6302T>C (p.Met2101Thr) rs1473588731
NM_182914.3(SYNE2):c.8232G>T (p.Lys2744Asn) rs886050583
NM_182914.3(SYNE2):c.8775C>T (p.Asn2925=) rs778905999
NM_182914.3(SYNE2):c.888+13A>G rs2096315740
NM_182914.3(SYNE2):c.9345C>G (p.Phe3115Leu) rs768731460
NM_182914.3(SYNE2):c.9396G>A (p.Lys3132=) rs566182360
NM_182914.3(SYNE2):c.9873A>G (p.Glu3291=) rs747745836
NM_182914.3(SYNE2):c.9999A>T (p.Leu3333Phe) rs2097267152

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