ClinVar Miner

List of variants studied for Nemaline myopathy 2 by Broad Institute Rare Disease Group,Broad Institute

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Total variants: 6

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HGVS	dbSNP
NM_001271208.2(NEB):c.12018+1G>A	rs762278237
NM_001271208.2(NEB):c.13130_13131del (p.Met4377fs)	rs1490309743
NM_001271208.2(NEB):c.13147C>T (p.Gln4383Ter)	rs1212374733
NM_001271208.2(NEB):c.24220-151C>A	rs1575076895
NM_001271208.2(NEB):c.24693C>G (p.Tyr8231Ter)	rs754272530
NM_001271208.2(NEB):c.7235A>G (p.Tyr2412Cys)	rs1575122611

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