ClinVar Miner

List of variants reported as benign for childhood-onset nemaline myopathy

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 157
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HGVS dbSNP
NM_001100.3(ACTA1):c.1125A>G (p.Lys375=) rs142311664
NM_001100.3(ACTA1):c.453C>A (p.Thr151=) rs76030344
NM_001100.3(ACTA1):c.617-5C>T rs199804338
NM_001100.3(ACTA1):c.996C>A (p.Ile332=) rs74897770
NM_001101362.2(KBTBD13):c.1077A>G (p.Gly359=) rs199526404
NM_001101362.2(KBTBD13):c.1128G>A (p.Thr376=) rs116623596
NM_001101362.2(KBTBD13):c.115G>C (p.Gly39Arg) rs201420126
NM_001101362.2(KBTBD13):c.1197C>T (p.Arg399=) rs150830358
NM_001101362.2(KBTBD13):c.1363A>G (p.Thr455Ala) rs116406369
NM_001101362.2(KBTBD13):c.171T>C (p.Gly57=) rs369379657
NM_001101362.2(KBTBD13):c.188A>T (p.Gln63Leu) rs202004658
NM_001101362.2(KBTBD13):c.246G>C (p.Val82=) rs115182478
NM_001101362.2(KBTBD13):c.769G>C (p.Asp257His) rs568675071
NM_001101362.2(KBTBD13):c.794G>A (p.Gly265Asp) rs146917406
NM_001101362.2(KBTBD13):c.89G>A (p.Gly30Asp) rs138484272
NM_001101362.2(KBTBD13):c.954C>G (p.Thr318=) rs368781046
NM_001101362.2(KBTBD13):c.958G>T (p.Val320Leu) rs367648853
NM_001101362.2(KBTBD13):c.981C>G (p.Thr327=) rs184130258
NM_001271208.2(NEB):c.10269G>A (p.Pro3423=) rs368719373
NM_001271208.2(NEB):c.10338T>C (p.Asn3446=) rs147569843
NM_001271208.2(NEB):c.10344C>T (p.Asn3448=) rs145052299
NM_001271208.2(NEB):c.10347+6C>T rs141088433
NM_001271208.2(NEB):c.10434T>C (p.Asn3478=) rs375543045
NM_001271208.2(NEB):c.10452+9A>G rs117270796
NM_001271208.2(NEB):c.10463G>A (p.Arg3488His) rs371605774
NM_001271208.2(NEB):c.11004G>A (p.Thr3668=) rs117018177
NM_001271208.2(NEB):c.11148G>C (p.Met3716Ile) rs149025191
NM_001271208.2(NEB):c.11729A>G (p.Asp3910Gly) rs35740585
NM_001271208.2(NEB):c.11769T>C (p.Ile3923=) rs80320923
NM_001271208.2(NEB):c.1206C>T (p.Cys402=) rs199695976
NM_001271208.2(NEB):c.12147G>A (p.Lys4049=) rs149639365
NM_001271208.2(NEB):c.12C>T (p.Asp4=) rs117178114
NM_001271208.2(NEB):c.1413C>T (p.Phe471=) rs112958786
NM_001271208.2(NEB):c.154_168CTGGCACAGCCAGCA[1] (p.52_56LAQPA[1]) rs377452683
NM_001271208.2(NEB):c.1675-9T>G rs75118047
NM_001271208.2(NEB):c.16762T>A (p.Ser5588Thr) rs35227368
NM_001271208.2(NEB):c.16788C>T (p.Asn5596=) rs186902443
NM_001271208.2(NEB):c.17049G>T (p.Ala5683=) rs140688592
NM_001271208.2(NEB):c.17304G>A (p.Leu5768=) rs35273905
NM_001271208.2(NEB):c.17747A>G (p.Lys5916Arg) rs73967567
NM_001271208.2(NEB):c.17887G>A (p.Val5963Ile) rs138217960
NM_001271208.2(NEB):c.18113A>G (p.Asn6038Ser) rs16830236
NM_001271208.2(NEB):c.18530G>A (p.Arg6177His) rs147159176
NM_001271208.2(NEB):c.18555G>A (p.Lys6185=) rs145252235
NM_001271208.2(NEB):c.1856A>G (p.Lys619Arg) rs147305883
NM_001271208.2(NEB):c.18693G>C (p.Ala6231=) rs141338915
NM_001271208.2(NEB):c.18783G>A (p.Gln6261=) rs148095660
NM_001271208.2(NEB):c.18861C>T (p.Arg6287=) rs146294986
NM_001271208.2(NEB):c.18997-10T>C rs4544436
NM_001271208.2(NEB):c.19056G>T (p.Thr6352=) rs115631125
NM_001271208.2(NEB):c.19102-6C>T rs145127681
NM_001271208.2(NEB):c.19311C>T (p.Ser6437=) rs16830216
NM_001271208.2(NEB):c.19377C>T (p.Asp6459=) rs187211085
NM_001271208.2(NEB):c.19455G>A (p.Lys6485=) rs182847302
NM_001271208.2(NEB):c.195G>A (p.Pro65=) rs79524813
NM_001271208.2(NEB):c.19665T>C (p.Ile6555=) rs150842230
NM_001271208.2(NEB):c.19732-6C>T rs11894996
NM_001271208.2(NEB):c.1981C>T (p.Leu661=) rs146460133
NM_001271208.2(NEB):c.20032C>T (p.Arg6678Cys) rs200239095
NM_001271208.2(NEB):c.20078C>T (p.Thr6693Ile) rs35707762
NM_001271208.2(NEB):c.20192A>T (p.Asp6731Val) rs2288200
NM_001271208.2(NEB):c.20263-15dup rs763008896
NM_001271208.2(NEB):c.20466+7G>A rs201684605
NM_001271208.2(NEB):c.20598C>G (p.Gly6866=) rs16830192
NM_001271208.2(NEB):c.20766C>T (p.Asp6922=) rs34555492
NM_001271208.2(NEB):c.21044C>G (p.Ser7015Cys) rs62167164
NM_001271208.2(NEB):c.21487T>C (p.Leu7163=) rs114218081
NM_001271208.2(NEB):c.21596G>A (p.Arg7199His) rs16830171
NM_001271208.2(NEB):c.21624C>T (p.Ser7208=) rs16830170
NM_001271208.2(NEB):c.21651C>T (p.Asn7217=) rs149510427
NM_001271208.2(NEB):c.21825C>T (p.Tyr7275=) rs34718443
NM_001271208.2(NEB):c.21943G>A (p.Asp7315Asn) rs200945025
NM_001271208.2(NEB):c.21961G>A (p.Asp7321Asn) rs35625617
NM_001271208.2(NEB):c.22068A>G (p.Lys7356=) rs61730765
NM_001271208.2(NEB):c.22110G>A (p.Thr7370=) rs201400523
NM_001271208.2(NEB):c.2283C>T (p.Ala761=) rs373946448
NM_001271208.2(NEB):c.23009G>A (p.Gly7670Glu) rs3732309
NM_001271208.2(NEB):c.23160G>A (p.Gly7720=) rs563896790
NM_001271208.2(NEB):c.2318A>G (p.Tyr773Cys) rs77151072
NM_001271208.2(NEB):c.23486C>T (p.Ser7829Leu) rs41270201
NM_001271208.2(NEB):c.23600C>T (p.Thr7867Ile) rs34368668
NM_001271208.2(NEB):c.23616G>A (p.Thr7872=) rs35808744
NM_001271208.2(NEB):c.23704A>C (p.Lys7902Gln) rs118191309
NM_001271208.2(NEB):c.23754+10_23754+11del rs772001300
NM_001271208.2(NEB):c.24161C>T (p.Pro8054Leu) rs189655274
NM_001271208.2(NEB):c.24313-7C>T rs113048349
NM_001271208.2(NEB):c.24369G>A (p.Met8123Ile) rs144709880
NM_001271208.2(NEB):c.25143A>G (p.Gln8381=) rs184319249
NM_001271208.2(NEB):c.25500T>G (p.Ser8500=) rs13031275
NM_001271208.2(NEB):c.25647C>T (p.Thr8549=) rs3821324
NM_001271208.2(NEB):c.2603T>C (p.Leu868Pro) rs143123053
NM_001271208.2(NEB):c.2604G>T (p.Leu868=) rs201698008
NM_001271208.2(NEB):c.2640C>T (p.Arg880=) rs114959904
NM_001271208.2(NEB):c.2832C>T (p.Ser944=) rs114076205
NM_001271208.2(NEB):c.3147+5G>A rs74859201
NM_001271208.2(NEB):c.3191A>G (p.Tyr1064Cys) rs187343008
NM_001271208.2(NEB):c.3248C>T (p.Ala1083Val) rs532130242
NM_001271208.2(NEB):c.3348C>T (p.Asn1116=) rs149162847
NM_001271208.2(NEB):c.3412A>G (p.Asn1138Asp) rs117048449
NM_001271208.2(NEB):c.3636C>T (p.Asp1212=) rs144376972
NM_001271208.2(NEB):c.3639C>T (p.Val1213=) rs74320183
NM_001271208.2(NEB):c.3775-6T>C rs80232472
NM_001271208.2(NEB):c.3801T>C (p.Asp1267=) rs182725059
NM_001271208.2(NEB):c.3826C>A (p.Pro1276Thr) rs34234609
NM_001271208.2(NEB):c.4221G>A (p.Gln1407=) rs6709752
NM_001271208.2(NEB):c.4272G>C (p.Thr1424=) rs35654397
NM_001271208.2(NEB):c.4407G>C (p.Glu1469Asp) rs34800215
NM_001271208.2(NEB):c.4980C>T (p.Pro1660=) rs142074817
NM_001271208.2(NEB):c.5102T>C (p.Val1701Ala) rs117271684
NM_001271208.2(NEB):c.539A>G (p.Lys180Arg) rs200719359
NM_001271208.2(NEB):c.5555T>G (p.Met1852Arg) rs144180493
NM_001271208.2(NEB):c.5567G>A (p.Arg1856Gln) rs141930814
NM_001271208.2(NEB):c.5718C>T (p.Ala1906=) rs115379999
NM_001271208.2(NEB):c.571G>C (p.Glu191Gln) rs35686968
NM_001271208.2(NEB):c.5763+4C>T rs78916288
NM_001271208.2(NEB):c.5772C>T (p.Tyr1924=) rs77547727
NM_001271208.2(NEB):c.5802C>T (p.Gly1934=) rs139963368
NM_001271208.2(NEB):c.5905T>C (p.Tyr1969His) rs34532796
NM_001271208.2(NEB):c.5968G>A (p.Glu1990Lys) rs146310692
NM_001271208.2(NEB):c.6069G>A (p.Met2023Ile) rs184262608
NM_001271208.2(NEB):c.612+8T>C rs113095802
NM_001271208.2(NEB):c.6159G>A (p.Lys2053=) rs140186806
NM_001271208.2(NEB):c.6166A>G (p.Arg2056Gly) rs115350357
NM_001271208.2(NEB):c.6615C>G (p.Arg2205=) rs200018782
NM_001271208.2(NEB):c.6717T>G (p.Ile2239Met) rs78733601
NM_001271208.2(NEB):c.675G>A (p.Pro225=) rs138528093
NM_001271208.2(NEB):c.7310G>A (p.Arg2437Gln) rs61730780
NM_001271208.2(NEB):c.7514C>A (p.Ala2505Glu) rs35292878
NM_001271208.2(NEB):c.7581C>T (p.Tyr2527=) rs200425929
NM_001271208.2(NEB):c.771T>C (p.Ala257=) rs4611637
NM_001271208.2(NEB):c.7875G>A (p.Lys2625=) rs577894144
NM_001271208.2(NEB):c.8189A>G (p.Asp2730Gly) rs76767949
NM_001271208.2(NEB):c.8202C>T (p.Val2734=) rs144595998
NM_001271208.2(NEB):c.8318G>A (p.Arg2773Gln) rs35974308
NM_001271208.2(NEB):c.8335A>G (p.Ile2779Val) rs114853127
NM_001271208.2(NEB):c.8466C>T (p.His2822=) rs61730771
NM_001271208.2(NEB):c.8553G>A (p.Gly2851=) rs200624735
NM_001271208.2(NEB):c.8592T>C (p.Asp2864=) rs61730772
NM_001271208.2(NEB):c.863A>G (p.Lys288Arg) rs202035863
NM_001271208.2(NEB):c.8643C>T (p.Ser2881=) rs150135749
NM_001271208.2(NEB):c.8646C>T (p.Asp2882=) rs61730773
NM_001271208.2(NEB):c.9052G>A (p.Asp3018Asn) rs192098032
NM_001271208.2(NEB):c.9072G>A (p.Ala3024=) rs369897667
NM_001271208.2(NEB):c.9315C>A (p.Val3105=) rs371174518
NM_001271208.2(NEB):c.9354A>G (p.Thr3118=) rs187637065
NM_001271208.2(NEB):c.9467T>A (p.Ile3156Asn) rs145770770
NM_001271208.2(NEB):c.9865G>A (p.Gly3289Ser) rs75639119
NM_006063.3(KLHL41):c.1251A>G (p.Val417=) rs79580851
NM_006063.3(KLHL41):c.1441A>G (p.Met481Val) rs34623017
NM_006063.3(KLHL41):c.15G>A (p.Arg5=) rs144048872
NM_006063.3(KLHL41):c.1737T>C (p.Ala579=) rs76875207
NM_006063.3(KLHL41):c.519A>G (p.Gln173=) rs144844327
NM_006063.3(KLHL41):c.652G>A (p.Val218Met) rs147527225
NM_006063.3(KLHL41):c.684A>C (p.Thr228=) rs141395388
NM_006063.3(KLHL41):c.863T>G (p.Leu288Arg) rs139415849
NM_006063.3(KLHL41):c.8C>T (p.Ser3Phe) rs28730867
NM_152263.4(TPM3):c.92A>C (p.Lys31Thr) rs62000429

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