ClinVar Miner

List of variants reported as benign for Autosomal dominant centronuclear myopathy

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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_001005361.3(DNM2):c.236-29C>G rs3826803 0.56569
NM_001005361.3(DNM2):c.2139T>C (p.Ala713=) rs2229920 0.30148
NM_001005361.3(DNM2):c.*268A>T rs12461992 0.17591
NM_001005361.3(DNM2):c.*385C>T rs78160240 0.03446
NM_001005361.3(DNM2):c.1077C>T (p.Gly359=) rs112238216 0.02416
NM_001005361.3(DNM2):c.2484G>A (p.Pro828=) rs114682382 0.01064
NM_001005361.3(DNM2):c.235+12C>A rs147026993 0.00953
NM_001005361.3(DNM2):c.1782-11C>T rs78580529 0.00921
NM_001005361.3(DNM2):c.235+6A>G rs113192269 0.00748
NM_001005361.3(DNM2):c.1196+773C>T rs150975494 0.00628
NM_001005361.3(DNM2):c.*47G>A rs367938944 0.00550
NM_001005361.3(DNM2):c.2543+7C>G rs201979143 0.00364
NM_001005361.3(DNM2):c.236-8C>G rs143084059 0.00361
NM_001005361.3(DNM2):c.519T>C (p.Ala173=) rs77702567 0.00359
NM_001005361.3(DNM2):c.*671T>C rs190696940 0.00325
NM_001005361.3(DNM2):c.190G>A (p.Val64Ile) rs144250390 0.00243
NM_002469.3(MYF6):c.352C>A (p.Arg118=) rs34563783 0.00197
NM_001005361.3(DNM2):c.2160C>T (p.Asp720=) rs117598326 0.00163
NM_001005361.3(DNM2):c.1902C>T (p.Asn634=) rs2229919 0.00149
NM_001005361.3(DNM2):c.238C>T (p.His80Tyr) rs148790687 0.00123
NM_001005361.3(DNM2):c.2061G>A (p.Thr687=) rs149164657 0.00102
NM_001005361.3(DNM2):c.*607G>A rs117954916 0.00085
NM_002469.3(MYF6):c.269C>A (p.Ala90Asp) rs138296448 0.00077
NM_002469.3(MYF6):c.292G>T (p.Ala98Ser) rs199669444 0.00047
NM_001005361.3(DNM2):c.788C>T (p.Pro263Leu) rs3745674 0.00043
NM_001005361.3(DNM2):c.*10G>A rs200188660 0.00029
NM_001005361.3(DNM2):c.2511G>A (p.Arg837=) rs200100669 0.00027
NM_001005361.3(DNM2):c.*321A>G rs149937994 0.00026
NM_001005361.3(DNM2):c.958G>A (p.Asp320Asn) rs150613209 0.00026
NM_001005361.3(DNM2):c.2567G>A (p.Ser856Asn) rs149825590 0.00021
NM_001005361.3(DNM2):c.882G>A (p.Pro294=) rs144790170 0.00018
NM_001005361.3(DNM2):c.*453C>T rs200104482 0.00016
NM_001005361.3(DNM2):c.1423-12G>A rs376753915 0.00014
NM_001005361.3(DNM2):c.*14C>T rs369529119 0.00010
NM_001005361.3(DNM2):c.555C>T (p.Asp185=) rs140788791 0.00009
NM_001005361.3(DNM2):c.1377C>T (p.Ile459=) rs369345296 0.00007
NM_001005361.3(DNM2):c.1558-7C>A rs184310103 0.00006
NM_001005361.3(DNM2):c.450A>G (p.Pro150=) rs766121627 0.00006
NM_001005361.3(DNM2):c.*601C>T rs185820576 0.00003
NM_001005361.3(DNM2):c.890G>A (p.Arg297His) rs763894364 0.00003
NM_001005361.3(DNM2):c.1196+710G>A rs140208362 0.00002
NM_001005361.3(DNM2):c.1400G>A (p.Arg467Gln) rs776126973 0.00001
NM_001005361.3(DNM2):c.*22C>T rs531170486
NM_001005361.3(DNM2):c.*35C>G rs199700849
NM_001005361.3(DNM2):c.*386G>C rs74952080
NM_001005361.3(DNM2):c.162-7C>A rs148318860

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