ClinVar Miner

List of variants in gene combination NEB, RIF1 reported as likely benign for Nemaline myopathy 2

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Total variants: 14
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HGVS dbSNP
NM_001271208.1(NEB):c.23940+17_23940+21del rs768100915
NM_001271208.2(NEB):c.21523-9A>G rs1553669362
NM_001271208.2(NEB):c.22077G>A (p.Lys7359=) rs267598918
NM_001271208.2(NEB):c.22377+7T>C rs762551492
NM_001271208.2(NEB):c.22378-36CT[5] rs751597547
NM_001271208.2(NEB):c.22479+7G>A rs750007608
NM_001271208.2(NEB):c.22533C>T (p.Leu7511=) rs371431256
NM_001271208.2(NEB):c.23011-6C>T rs1449487575
NM_001271208.2(NEB):c.23233-18del rs1553616477
NM_001271208.2(NEB):c.23346+16C>T rs75221580
NM_001271208.2(NEB):c.23808A>G (p.Glu7936=) rs779612457
NM_001271208.2(NEB):c.24312G>A (p.Ser8104=) rs763193315
NM_001271208.2(NEB):c.24720C>T (p.Pro8240=) rs371270146
NM_001271208.2(NEB):c.25403-11_25403-10del rs1553519312

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