ClinVar Miner

List of variants reported as pathogenic for Nemaline myopathy 2 by Institute of Human Genetics,Klinikum rechts der Isar

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Total variants: 6
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HGVS dbSNP
GRCh37/hg19 2q23.3(chr2:152502644-152502748)
NM_001271208.2(NEB):c.19800C>G (p.Tyr6600Ter) rs552379239
NM_001271208.2(NEB):c.20808T>A (p.Tyr6936Ter) rs753417634
NM_001271208.2(NEB):c.24314_24317dup (p.Leu8106fs) rs781667543
NM_001271208.2(NEB):c.3255+1G>A rs375628303
NM_001271208.2(NEB):c.9619-2A>G rs375145370

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