ClinVar Miner

List of variants studied for Polyglucosan body myopathy type 1 by Revvity Omics, Revvity

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_031229.4(RBCK1):c.940C>T (p.Arg314Cys)	rs144105841	0.00004
NM_031229.4(RBCK1):c.941G>A (p.Arg314His)	rs759203606	0.00004
NM_031229.4(RBCK1):c.697_703dup (p.Glu235fs)	rs730880330	0.00001

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