ClinVar Miner

List of variants reported as likely benign for childhood-onset nemaline myopathy by Natera, Inc.

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 150
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.13353C>T (p.Ala4451=) rs774726264 0.33333
NM_001164508.2(NEB):c.13534G>A (p.Ala4512Thr) rs886038435 0.07143
NM_001164508.2(NEB):c.3147+5G>A rs74859201 0.01118
NM_001164508.2(NEB):c.5567G>A (p.Arg1856Gln) rs141930814 0.01071
NM_001164508.2(NEB):c.20078C>T (p.Thr6693Ile) rs35707762 0.00734
NM_001164508.2(NEB):c.2832C>T (p.Ser944=) rs114076205 0.00714
NM_001164508.2(NEB):c.3191A>G (p.Tyr1064Cys) rs187343008 0.00681
NM_001164508.2(NEB):c.19455G>A (p.Lys6485=) rs182847302 0.00430
NM_001164508.2(NEB):c.5555T>G (p.Met1852Arg) rs144180493 0.00336
NM_001164508.2(NEB):c.3636C>T (p.Asp1212=) rs144376972 0.00333
NM_001164508.2(NEB):c.5968G>A (p.Glu1990Lys) rs146310692 0.00320
NM_001164508.2(NEB):c.4649A>G (p.Lys1550Arg) rs114089598 0.00312
NM_001164508.2(NEB):c.7514C>A (p.Ala2505Glu) rs35292878 0.00292
NM_001164508.2(NEB):c.10744G>A (p.Val3582Ile) rs139798654 0.00257
NM_001164508.2(NEB):c.4980C>T (p.Pro1660=) rs142074817 0.00242
NM_001164508.2(NEB):c.4272G>C (p.Thr1424=) rs35654397 0.00236
NM_001164508.2(NEB):c.25367C>T (p.Thr8456Met) rs78592085 0.00208
NM_001164508.2(NEB):c.3593A>G (p.Asn1198Ser) rs146616621 0.00200
NM_001164508.2(NEB):c.17497G>A (p.Val5833Ile) rs149881695 0.00187
NM_001164508.2(NEB):c.21685G>C (p.Asp7229His) rs201979610 0.00182
NM_001164508.2(NEB):c.19377C>T (p.Asp6459=) rs187211085 0.00156
NM_001164508.2(NEB):c.22878C>A (p.Ala7626=) rs185574478 0.00145
NM_001164508.2(NEB):c.7126G>C (p.Val2376Leu) rs141155976 0.00142
NM_001164508.2(NEB):c.19626T>C (p.Asp6542=) rs190336010 0.00140
NM_001164508.2(NEB):c.2510A>G (p.Lys837Arg) rs189623595 0.00125
NM_001164508.2(NEB):c.12640-4A>G rs549888246 0.00122
NM_001164508.2(NEB):c.12C>T (p.Asp4=) rs117178114 0.00119
NM_001164508.2(NEB):c.17601G>A (p.Val5867=) rs58263509 0.00118
NM_001164508.2(NEB):c.8202C>T (p.Val2734=) rs144595998 0.00117
NM_001164508.2(NEB):c.4221G>A (p.Gln1407=) rs6709752 0.00116
NM_001164508.2(NEB):c.469A>G (p.Ile157Val) rs188718613 0.00115
NM_001164508.2(NEB):c.177G>A (p.Gln59=) rs200990309 0.00112
NM_001164508.2(NEB):c.23267T>C (p.Met7756Thr) rs201767727 0.00108
NM_001164508.2(NEB):c.4834C>T (p.Arg1612Cys) rs200545007 0.00108
NM_001164508.2(NEB):c.8553G>A (p.Gly2851=) rs200624735 0.00101
NM_001164508.2(NEB):c.2603T>C (p.Leu868Pro) rs143123053 0.00083
NM_001164508.2(NEB):c.21419T>C (p.Ile7140Thr) rs200112795 0.00077
NM_001164508.2(NEB):c.7581C>T (p.Tyr2527=) rs200425929 0.00075
NM_001164508.2(NEB):c.22005G>A (p.Thr7335=) rs201400523 0.00072
NM_001164508.2(NEB):c.25038A>G (p.Gln8346=) rs184319249 0.00069
NM_001164508.2(NEB):c.984C>T (p.Thr328=) rs199969138 0.00052
NM_001164508.2(NEB):c.4198G>A (p.Ala1400Thr) rs113174390 0.00047
NM_001164508.2(NEB):c.5031+4T>C rs370999716 0.00041
NM_001164508.2(NEB):c.8801G>A (p.Arg2934His) rs200307392 0.00039
NM_001164508.2(NEB):c.12688A>G (p.Ile4230Val) rs532986882 0.00036
NM_001164508.2(NEB):c.5712T>C (p.Pro1904=) rs35946547 0.00034
NM_001164508.2(NEB):c.6817A>G (p.Lys2273Glu) rs199700878 0.00031
NM_001164508.2(NEB):c.20098C>A (p.Leu6700Ile) rs202139330 0.00029
NM_001164508.2(NEB):c.21522T>C (p.Asp7174=) rs185169373 0.00029
NM_001164508.2(NEB):c.23013C>T (p.Ser7671=) rs370873040 0.00029
NM_001164508.2(NEB):c.17838G>A (p.Gln5946=) rs376199241 0.00025
NM_001164508.2(NEB):c.2343G>A (p.Lys781=) rs191610670 0.00023
NM_001164508.2(NEB):c.5181C>T (p.Tyr1727=) rs35016946 0.00023
NM_001164508.2(NEB):c.4149C>T (p.Thr1383=) rs148794372 0.00019
NM_001164508.2(NEB):c.20896C>T (p.Arg6966Cys) rs115623365 0.00018
NM_001164508.2(NEB):c.8490G>A (p.Arg2830=) rs368217121 0.00016
NM_001164508.2(NEB):c.4305G>A (p.Val1435=) rs111241479 0.00015
NM_001164508.2(NEB):c.7342C>T (p.Arg2448Cys) rs576076237 0.00014
NM_001164508.2(NEB):c.17898G>A (p.Pro5966=) rs376655029 0.00013
NM_001164508.2(NEB):c.780A>G (p.Pro260=) rs80255720 0.00012
NM_001164508.2(NEB):c.13661G>A (p.Ser4554Asn) rs1057522021 0.00011
NM_001164508.2(NEB):c.1182A>C (p.Thr394=) rs186233985 0.00010
NM_001164508.2(NEB):c.19751T>G (p.Met6584Arg) rs190605644 0.00010
NM_001164508.2(NEB):c.9345C>T (p.His3115=) rs367739638 0.00009
NM_001164508.2(NEB):c.105G>A (p.Thr35=) rs368075131 0.00007
NM_001164508.2(NEB):c.16875C>T (p.Val5625=) rs757882235 0.00007
NM_001164508.2(NEB):c.10233T>C (p.Ala3411=) rs727504033 0.00006
NM_001164508.2(NEB):c.10821C>T (p.Pro3607=) rs375814899 0.00006
NM_001164508.2(NEB):c.20127C>T (p.His6709=) rs368328496 0.00006
NM_001164508.2(NEB):c.2415T>C (p.Asp805=) rs566989836 0.00006
NM_001164508.2(NEB):c.11712G>A (p.Lys3904=) rs767231395 0.00005
NM_001164508.2(NEB):c.13044C>T (p.Tyr4348=) rs1167279039 0.00005
NM_001164508.2(NEB):c.17832C>T (p.Asp5944=) rs544453966 0.00005
NM_001164508.2(NEB):c.24820T>C (p.Leu8274=) rs372203426 0.00005
NM_001164508.2(NEB):c.9768C>T (p.Tyr3256=) rs747458739 0.00005
NM_001164508.2(NEB):c.10074C>T (p.His3358=) rs896373241 0.00004
NM_001164508.2(NEB):c.10986C>T (p.Tyr3662=) rs373365702 0.00004
NM_001164508.2(NEB):c.11697C>A (p.Ile3899=) rs755871388 0.00004
NM_001164508.2(NEB):c.1386C>T (p.Tyr462=) rs376911383 0.00004
NM_001164508.2(NEB):c.17415C>T (p.Tyr5805=) rs555516831 0.00004
NM_001164508.2(NEB):c.17845-6C>T rs376370460 0.00004
NM_001164508.2(NEB):c.19476C>T (p.Ile6492=) rs113068669 0.00004
NM_001164508.2(NEB):c.20940G>A (p.Thr6980=) rs369611234 0.00004
NM_001164508.2(NEB):c.4593C>T (p.Asn1531=) rs373328073 0.00004
NM_001164508.2(NEB):c.5229C>T (p.Asn1743=) rs769446481 0.00004
NM_001164508.2(NEB):c.7134C>T (p.Asp2378=) rs752098313 0.00004
NM_001164508.2(NEB):c.12288C>T (p.Asn4096=) rs755521679 0.00003
NM_001164508.2(NEB):c.1230T>C (p.Asp410=) rs78892743 0.00003
NM_001164508.2(NEB):c.12666C>T (p.Asp4222=) rs1310326732 0.00003
NM_001164508.2(NEB):c.339C>T (p.Tyr113=) rs546510007 0.00003
NM_001164508.2(NEB):c.4341C>T (p.Ile1447=) rs576286059 0.00003
NM_001164508.2(NEB):c.7623C>T (p.Ala2541=) rs371570995 0.00003
NM_001164508.2(NEB):c.11181T>A (p.Asp3727Glu) rs551261559 0.00002
NM_001164508.2(NEB):c.11754C>T (p.Thr3918=) rs368230090 0.00002
NM_001164508.2(NEB):c.12732A>G (p.Arg4244=) rs1396568234 0.00002
NM_001164508.2(NEB):c.16995T>C (p.Asn5665=) rs761988373 0.00002
NM_001164508.2(NEB):c.2382C>T (p.Ile794=) rs532547534 0.00002
NM_001164508.2(NEB):c.4548T>C (p.Tyr1516=) rs748479655 0.00002
NM_001164508.2(NEB):c.5697C>T (p.Thr1899=) rs761341951 0.00002
NM_001164508.2(NEB):c.5868T>C (p.Ser1956=) rs374717947 0.00002
NM_001164508.2(NEB):c.6390C>T (p.Ala2130=) rs974601635 0.00002
NM_001164508.2(NEB):c.8556G>A (p.Val2852=) rs368155040 0.00002
NM_001164508.2(NEB):c.9133C>T (p.Leu3045Phe) rs533898172 0.00002
NM_001164508.2(NEB):c.114G>A (p.Arg38=) rs1578040445 0.00001
NM_001164508.2(NEB):c.11589C>T (p.Asp3863=) rs372772607 0.00001
NM_001164508.2(NEB):c.13251A>C (p.Val4417=) rs1246456851 0.00001
NM_001164508.2(NEB):c.1614T>C (p.His538=) rs769074908 0.00001
NM_001164508.2(NEB):c.18531C>T (p.Arg6177=) rs541088387 0.00001
NM_001164508.2(NEB):c.18762C>T (p.His6254=) rs748339284 0.00001
NM_001164508.2(NEB):c.192G>A (p.Lys64=) rs761189437 0.00001
NM_001164508.2(NEB):c.20727C>T (p.His6909=) rs779779886 0.00001
NM_001164508.2(NEB):c.21735T>C (p.Asn7245=) rs568248647 0.00001
NM_001164508.2(NEB):c.21906C>T (p.Asn7302=) rs757845188 0.00001
NM_001164508.2(NEB):c.21976A>C (p.Arg7326=) rs780790042 0.00001
NM_001164508.2(NEB):c.22629C>T (p.Pro7543=) rs373263895 0.00001
NM_001164508.2(NEB):c.22986T>C (p.His7662=) rs149606244 0.00001
NM_001164508.2(NEB):c.249C>T (p.Thr83=) rs200936927 0.00001
NM_001164508.2(NEB):c.2931C>T (p.Asp977=) rs1576205507 0.00001
NM_001164508.2(NEB):c.2979T>C (p.Phe993=) rs780408206 0.00001
NM_001164508.2(NEB):c.4218A>G (p.Lys1406=) rs754513702 0.00001
NM_001164508.2(NEB):c.4243C>T (p.Leu1415=) rs749514411 0.00001
NM_001164508.2(NEB):c.6A>T (p.Ala2=) rs778187569 0.00001
NM_001164508.2(NEB):c.7863C>T (p.Asp2621=) rs1419803549 0.00001
NM_001164508.2(NEB):c.7908C>T (p.Asp2636=) rs774348830 0.00001
NM_001164508.2(NEB):c.8775T>C (p.Thr2925=) rs761257246 0.00001
NM_001164508.2(NEB):c.9051C>T (p.Ser3017=) rs777722290 0.00001
NM_001164508.2(NEB):c.9504C>T (p.Thr3168=) rs770587751 0.00001
NM_001164508.2(NEB):c.10591T>C (p.Leu3531=) rs2098336175
NM_001164508.2(NEB):c.12426C>T (p.Leu4142=) rs1320574868
NM_001164508.2(NEB):c.12474C>T (p.Thr4158=) rs1579059705
NM_001164508.2(NEB):c.12483C>T (p.Val4161=) rs876657539
NM_001164508.2(NEB):c.12720C>T (p.Ala4240=) rs1579015882
NM_001164508.2(NEB):c.13105C>T (p.Leu4369=) rs147579763
NM_001164508.2(NEB):c.1314C>T (p.Phe438=) rs765769921
NM_001164508.2(NEB):c.13185T>C (p.Pro4395=) rs1344892267
NM_001164508.2(NEB):c.13276G>A (p.Asp4426Asn) rs876657540
NM_001164508.2(NEB):c.13317T>C (p.Ala4439=) rs1578873204
NM_001164508.2(NEB):c.13533C>T (p.Ser4511=) rs1168966918
NM_001164508.2(NEB):c.13548T>G (p.Pro4516=) rs1578803539
NM_001164508.2(NEB):c.13626C>G (p.Ala4542=) rs201225445
NM_001164508.2(NEB):c.13737C>T (p.Pro4579=) rs1578801445
NM_001164508.2(NEB):c.153_167dup (p.52LAQPA[3]) rs757726895
NM_001164508.2(NEB):c.168A>G (p.Ala56=) rs200297299
NM_001164508.2(NEB):c.17049G>A (p.Ala5683=) rs140688592
NM_001164508.2(NEB):c.18064A>G (p.Ile6022Val) rs574746662
NM_001164508.2(NEB):c.18852T>C (p.Asn6284=) rs1362922636
NM_001164508.2(NEB):c.25236A>G (p.Ser8412=) rs1574544943
NM_001164508.2(NEB):c.5055C>A (p.Thr1685=) rs1575578013
NM_001164508.2(NEB):c.7831T>C (p.Leu2611=) rs772164378
NM_001164508.2(NEB):c.9467T>A (p.Ile3156Asn) rs145770770

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