ClinVar Miner

List of variants reported as benign for Nemaline myopathy 2

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Total variants: 29
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HGVS dbSNP
NM_001271208.2(NEB):c.10809G>C (p.Trp3603Cys) rs10172023
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.16762T>A (p.Ser5588Thr) rs35227368
NM_001271208.2(NEB):c.17635-15dup rs3214503
NM_001271208.2(NEB):c.18555G>A (p.Lys6185=) rs145252235
NM_001271208.2(NEB):c.18997-10T>C rs4544436
NM_001271208.2(NEB):c.19102-6C>T rs145127681
NM_001271208.2(NEB):c.19732-6C>T rs11894996
NM_001271208.2(NEB):c.20192A>T (p.Asp6731Val) rs2288200
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.21487T>C (p.Leu7163=) rs114218081
NM_001271208.2(NEB):c.21651C>T (p.Asn7217=) rs149510427
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.23486C>T (p.Ser7829Leu) rs41270201
NM_001271208.2(NEB):c.24313-7C>T rs113048349
NM_001271208.2(NEB):c.25500T>G (p.Ser8500=) rs13031275
NM_001271208.2(NEB):c.3147+5G>A rs74859201
NM_001271208.2(NEB):c.4407G>C (p.Glu1469Asp) rs34800215
NM_001271208.2(NEB):c.5567G>A (p.Arg1856Gln) rs141930814
NM_001271208.2(NEB):c.571G>C (p.Glu191Gln) rs35686968
NM_001271208.2(NEB):c.612+8T>C rs113095802
NM_001271208.2(NEB):c.7310G>A (p.Arg2437Gln) rs61730780
NM_001271208.2(NEB):c.771T>C (p.Ala257=) rs4611637
NM_001271208.2(NEB):c.8318G>A (p.Arg2773Gln) rs35974308
NM_001271208.2(NEB):c.8466C>T (p.His2822=) rs61730771
NM_001271208.2(NEB):c.9467T>A (p.Ile3156Asn) rs145770770

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