ClinVar Miner

List of variants reported for Myopathy, centronuclear, 2 by Genetic Services Laboratory, University of Chicago

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_139343.3(BIN1):c.30G>A (p.Thr10=) rs35535012 0.00067
NM_139343.3(BIN1):c.1461C>T (p.Ser487=) rs34647988 0.00007
NM_139343.3(BIN1):c.1713G>A (p.Trp571Ter) rs587783343
NM_139343.3(BIN1):c.957C>A (p.Ala319=) rs2276579
NM_139343.3(BIN1):c.957C>G (p.Ala319=) rs2276579

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