ClinVar Miner

List of variants studied for Polyglucosan body myopathy type 1 by Fulgent Genetics, Fulgent Genetics

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_031229.4(RBCK1):c.-9C>A	rs140276089	0.00018
NM_031229.4(RBCK1):c.1029G>A (p.Ala343=)	rs201470953	0.00006
NM_031229.4(RBCK1):c.1465del (p.Thr489fs)	rs2122348874
NM_031229.4(RBCK1):c.724_727dup (p.Glu243fs)	rs730880329

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