ClinVar Miner

List of variants studied for Nemaline myopathy 2 by Mendelics

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Total variants: 13
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HGVS dbSNP
NM_001271208.2(NEB):c.10612C>T (p.Arg3538Ter) rs779909544
NM_001271208.2(NEB):c.10809G>C (p.Trp3603Cys) rs10172023
NM_001271208.2(NEB):c.1674+2T>C rs1553603437
NM_001271208.2(NEB):c.17635-15dup rs3214503
NM_001271208.2(NEB):c.19102-10_19102-4del rs1577576425
NM_001271208.2(NEB):c.20467-2A>C rs1392500142
NM_001271208.2(NEB):c.22377+2dup rs773465809
NM_001271208.2(NEB):c.22432C>T (p.Arg7478Ter) rs1576203853
NM_001271208.2(NEB):c.22853C>G (p.Pro7618Arg) rs1575897069
NM_001271208.2(NEB):c.23245C>T (p.Arg7749Ter) rs1575714905
NM_001271208.2(NEB):c.23952del (p.Glu7985fs) rs1575305566
NM_001271208.2(NEB):c.24409_24410dup (p.Leu8137fs) rs1559207733
NM_001271208.2(NEB):c.8889+1G>A rs1553963960

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