ClinVar Miner

List of variants in gene combination NEB, RIF1 reported as likely benign for Nemaline Myopathy, Recessive

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Total variants: 10
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HGVS dbSNP
NM_001271208.2(NEB):c.*264_*265del rs59509952
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.23009G>A (p.Gly7670Glu) rs3732309
NM_001271208.2(NEB):c.23486C>T (p.Ser7829Leu) rs41270201
NM_001271208.2(NEB):c.23704A>C (p.Lys7902Gln) rs118191309
NM_001271208.2(NEB):c.25255+12G>A rs4414676
NM_001271208.2(NEB):c.25500T>G (p.Ser8500=) rs13031275
NM_001271208.2(NEB):c.25647C>T (p.Thr8549=) rs3821324

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