ClinVar Miner

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

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Total variants: 12
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HGVS dbSNP
NM_001271208.2(NEB):c.10809G>C (p.Trp3603Cys) rs10172023
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.3081A>T (p.Lys1027Asn) rs6735208
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.5370G>A (p.Glu1790=) rs10170273
NM_001271208.2(NEB):c.6807+6T>G rs10930723
NM_001271208.2(NEB):c.771T>C (p.Ala257=) rs4611637
NM_001271208.2(NEB):c.7839G>C (p.Lys2613Asn) rs13013209
NM_001271208.2(NEB):c.8734T>C (p.Ser2912Pro) rs6713162
NM_004543.4(NEB):c.12532-3dupT rs3214503

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