ClinVar Miner

List of variants studied for Myopathy, centronuclear, 5 by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_005876.5(SPEG):c.3700C>T (p.Arg1234Trp) rs55916864 0.00063
NM_005876.5(SPEG):c.3163C>T (p.Arg1055Trp) rs1202116887 0.00001
NM_005876.5(SPEG):c.8239C>T (p.Arg2747Cys) rs757903145 0.00001

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