List of variants reported as benign for polyglucosan body myopathy 1 with or without immunodeficiency by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_031229.4(RBCK1):c.261+15G>T	rs11698154	0.14404
NM_031229.4(RBCK1):c.144G>A (p.Glu48=)	rs41281892	0.03013
NM_031229.4(RBCK1):c.757-15G>C	rs200457271	0.00970
NM_031229.4(RBCK1):c.756+3G>A	rs146804136	0.00350
NM_031229.4(RBCK1):c.168-20G>T	rs149174797	0.00153
NM_031229.4(RBCK1):c.1030-18G>A	rs369024234	0.00092
NM_031229.4(RBCK1):c.1453-10C>T	rs112086441	0.00086
NM_031229.4(RBCK1):c.150C>T (p.Ser50=)	rs149008463	0.00081
NM_031229.4(RBCK1):c.1257C>T (p.Ala419=)	rs151306710	0.00070
NM_031229.4(RBCK1):c.957G>A (p.Ala319=)	rs148685980	0.00014
NM_031229.4(RBCK1):c.1308+20G>A	rs141923181	0.00010
NM_031229.4(RBCK1):c.738G>T (p.Ala246=)	rs2281553	0.00008
NM_031229.4(RBCK1):c.1209+24del
NM_031229.4(RBCK1):c.583-17G>C
NM_031229.4(RBCK1):c.757-16dup
NM_031229.4(RBCK1):c.917+11dup

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