ClinVar Miner

List of variants in gene NEB reported as likely benign for Nemaline Myopathy, Recessive

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Total variants: 35
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HGVS dbSNP
NM_001271208.2(NEB):c.10452+9A>G rs117270796
NM_001271208.2(NEB):c.10707G>A (p.Lys3569=) rs6717213
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.1675-9T>G rs75118047
NM_001271208.2(NEB):c.16762T>A (p.Ser5588Thr) rs35227368
NM_001271208.2(NEB):c.16911A>G (p.Pro5637=) rs33988153
NM_001271208.2(NEB):c.18693G>C (p.Ala6231=) rs141338915
NM_001271208.2(NEB):c.18997-10T>C rs4544436
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.195G>A (p.Pro65=) rs79524813
NM_001271208.2(NEB):c.19732-6C>T rs11894996
NM_001271208.2(NEB):c.20192A>T (p.Asp6731Val) rs2288200
NM_001271208.2(NEB):c.20467-4T>A rs199791504
NM_001271208.2(NEB):c.20598C>G (p.Gly6866=) rs16830192
NM_001271208.2(NEB):c.2318A>G (p.Tyr773Cys) rs77151072
NM_001271208.2(NEB):c.2524-15G>T rs151206071
NM_001271208.2(NEB):c.2944-9G>A rs13427102
NM_001271208.2(NEB):c.3412A>G (p.Asn1138Asp) rs117048449
NM_001271208.2(NEB):c.3775-6T>C rs80232472
NM_001271208.2(NEB):c.4407G>C (p.Glu1469Asp) rs34800215
NM_001271208.2(NEB):c.5102T>C (p.Val1701Ala) rs117271684
NM_001271208.2(NEB):c.5772C>T (p.Tyr1924=) rs77547727
NM_001271208.2(NEB):c.5971C>T (p.His1991Tyr) rs75807392
NM_001271208.2(NEB):c.612+8T>C rs113095802
NM_001271208.2(NEB):c.6184-14T>A rs10173335
NM_001271208.2(NEB):c.6717T>G (p.Ile2239Met) rs78733601
NM_001271208.2(NEB):c.7310G>A (p.Arg2437Gln) rs61730780
NM_001271208.2(NEB):c.8189A>G (p.Asp2730Gly) rs76767949
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.8592T>C (p.Asp2864=) rs61730772
NM_001271208.2(NEB):c.863A>G (p.Lys288Arg) rs202035863

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