ClinVar Miner

List of variants reported as benign for Nemaline myopathy 2

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ClinVar version:
Total variants: 186
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HGVS dbSNP
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.10341G>A (p.Met3447Ile) rs370053963
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.10707G>A (p.Lys3569=) rs6717213
NM_001271208.2(NEB):c.10809G>C (p.Trp3603Cys) rs10172023
NM_001271208.2(NEB):c.11004G>A (p.Thr3668=) rs117018177
NM_001271208.2(NEB):c.11133T>C (p.Asp3711=) rs547109690
NM_001271208.2(NEB):c.11148G>C (p.Met3716Ile) rs149025191
NM_001271208.2(NEB):c.11181T>A (p.Asp3727Glu) rs551261559
NM_001271208.2(NEB):c.11182-8T>A rs183088493
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.12210C>G (p.Ala4070=) rs749556191
NM_001271208.2(NEB):c.12640-4A>G rs549888246
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.153_167dup (p.52_56LAQPA[3]) rs757726895
NM_001271208.2(NEB):c.154_168CTGGCACAGCCAGCA[1] (p.52_56LAQPA[1]) rs377452683
NM_001271208.2(NEB):c.1675-8_1675-7del rs749876066
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.16911A>G (p.Pro5637=) rs33988153
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.17601G>A (p.Val5867=) rs58263509
NM_001271208.2(NEB):c.17635-15dup rs3214503
NM_001271208.2(NEB):c.17635-3del rs3214503
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.18294T>C (p.Tyr6098=) rs2288211
NM_001271208.2(NEB):c.18305G>C (p.Arg6102Thr) rs2288210
NM_001271208.2(NEB):c.1839C>T (p.Ser613=) rs751976783
NM_001271208.2(NEB):c.18530G>A (p.Arg6177His) rs147159176
NM_001271208.2(NEB):c.18531C>T (p.Arg6177=) rs541088387
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.19285G>A (p.Ala6429Thr) rs149752325
NM_001271208.2(NEB):c.19286C>A (p.Ala6429Asp) rs139636644
NM_001271208.2(NEB):c.19295A>G (p.Gln6432Arg) rs189912759
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.19550G>A (p.Arg6517His) rs149596493
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.19746T>C (p.Ala6582=) rs143456239
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.20089G>A (p.Gly6697Arg) rs201071685
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.20467-4T>A rs199791504
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.20896C>T (p.Arg6966Cys) rs115623365
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.21524T>C (p.Ile7175Thr) rs200112795
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.21690A>G (p.Thr7230=) rs4664475
NM_001271208.2(NEB):c.21825C>T (p.Tyr7275=) rs34718443
NM_001271208.2(NEB):c.21856C>G (p.Gln7286Glu) rs373946758
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.2343G>A (p.Lys781=) rs191610670
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.24538G>C (p.Ala8180Pro) rs7575451
NM_001271208.2(NEB):c.24979-8C>T rs200902944
NM_001271208.2(NEB):c.25143A>G (p.Gln8381=) rs184319249
NM_001271208.2(NEB):c.25255+12G>A rs4414676
NM_001271208.2(NEB):c.25266G>A (p.Gln8422=) rs376897146
NM_001271208.2(NEB):c.25268G>A (p.Arg8423His) rs139333406
NM_001271208.2(NEB):c.25309A>G (p.Ile8437Val) rs1061305
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.2944-9G>A rs13427102
NM_001271208.2(NEB):c.3081A>T (p.Lys1027Asn) rs6735208
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.3399A>G (p.Thr1133=) rs543961404
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.3901= (p.Tyr1301=) rs6711382
NM_001271208.2(NEB):c.3987+11A>T rs116903097
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.4435G>A (p.Val1479Ile) rs34577613
NM_001271208.2(NEB):c.4471G>A (p.Val1491Met) rs7426114
NM_001271208.2(NEB):c.469A>G (p.Ile157Val) rs188718613
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.5370G>A (p.Glu1790=) rs10170273
NM_001271208.2(NEB):c.539A>G (p.Lys180Arg) rs200719359
NM_001271208.2(NEB):c.5411C>A (p.Ala1804Glu) rs78420579
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.5971C>T (p.His1991Tyr) rs75807392
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.6184-14T>A rs10173335
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.6807+10T>C rs375723456
NM_001271208.2(NEB):c.6807+6T>G rs10930723
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.780A>G (p.Pro260=) rs80255720
NM_001271208.2(NEB):c.7839G>C (p.Lys2613Asn) rs13013209
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.8490G>A (p.Arg2830=) rs368217121
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.8734T>C (p.Ser2912Pro) rs6713162
NM_001271208.2(NEB):c.8801G>A (p.Arg2934His) rs200307392
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.914A>G (p.Asp305Gly) rs36105240
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.9723+7G>A rs557480322
NM_001271208.2(NEB):c.9865G>A (p.Gly3289Ser) rs75639119

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