ClinVar Miner

List of variants studied for Nemaline myopathy 2 by OMIM

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Total variants: 11
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HGVS dbSNP
NEB, 2-BP DEL, AG, EX172
NEB, 2-BP DEL, GA, EX181 rs1559154278
NM_001271208.2(NEB):c.10872+1G>T rs1336053002
NM_001271208.2(NEB):c.19097G>T (p.Ser6366Ile) rs191579691
NM_001271208.2(NEB):c.22249A>C (p.Thr7417Pro) rs761232641
NM_001271208.2(NEB):c.22584+1G>C rs1057515575
NM_001271208.2(NEB):c.22746del (p.Met7582fs) rs1057515573
NM_001271208.2(NEB):c.23500_23503dup (p.Leu7835fs) rs1057515574
NM_001271208.2(NEB):c.25279G>T (p.Glu8427Ter) rs121913662
NM_001271208.2(NEB):c.2920C>T (p.Arg974Ter) rs1553548666
NM_001271208.2(NEB):c.7431+1919_7536+374del

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