ClinVar Miner

List of variants reported as uncertain significance for Nemaline myopathy 2 by Mayo Clinic Laboratories, Mayo Clinic

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.5503C>T (p.Arg1835Trp) rs199694315 0.00039
NM_001164508.2(NEB):c.22429G>A (p.Gly7477Ser) rs764674361 0.00003
NM_001164508.2(NEB):c.1316A>G (p.Glu439Gly) rs1553608272
NM_001164508.2(NEB):c.20711A>G (p.Glu6904Gly) rs886054930

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