ClinVar Miner

List of variants studied for Nemaline myopathy 2 by OMIM

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.22144A>C (p.Thr7382Pro) rs761232641 0.00001
NM_001164508.2(NEB):c.19097G>T (p.Ser6366Ile) rs191579691
NM_001164508.2(NEB):c.22479+1G>C rs1057515575
NM_001164508.2(NEB):c.22641del (p.Met7547fs) rs1057515573
NM_001164508.2(NEB):c.23395_23398dup (p.Leu7800fs) rs1057515574
NM_001164508.2(NEB):c.25174G>T (p.Glu8392Ter) rs121913662
NM_001164508.2(NEB):c.7431+1919_7536+374del

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