ClinVar Miner

List of variants studied for Nemaline myopathy 2 by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 8
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NM_001271208.2(NEB):c.24219+1G>A rs755239192
NM_001271208.2(NEB):c.24325G>T (p.Glu8109Ter) rs1218073575
NM_001271208.2(NEB):c.24407_24410dup (p.Leu8137fs) rs1344099907
NM_001271208.2(NEB):c.6127A>G (p.Arg2043Gly) rs1321911647
NM_001271208.2(NEB):c.6385C>T (p.Gln2129Ter) rs80344795
NM_001271208.2(NEB):c.9125G>A (p.Cys3042Tyr)
NM_001271208.2(NEB):c.9619C>T (p.Arg3207Cys) rs200351671
NM_001271208.2(NEB):c.9631G>A (p.Glu3211Lys)

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