List of variants in gene RBCK1 reported as pathogenic for carbohydrate metabolism disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NM_031229.4(RBCK1):c.1054C>T (p.Arg352Ter)	rs780854072	0.00001
NM_031229.4(RBCK1):c.1411G>A (p.Glu471Lys)	rs1342598444	0.00001
NM_031229.4(RBCK1):c.697_703dup (p.Glu235fs)	rs730880330	0.00001
NM_031229.4(RBCK1):c.1111dup (p.Cys371fs)
NM_031229.4(RBCK1):c.1112G>T (p.Cys371Phe)	rs1555787599
NM_031229.4(RBCK1):c.1136G>A (p.Trp379Ter)
NM_031229.4(RBCK1):c.1258_1259dup (p.Arg421fs)	rs2122333654
NM_031229.4(RBCK1):c.1308+1G>T	rs1555787903
NM_031229.4(RBCK1):c.1386G>A (p.Trp462Ter)
NM_031229.4(RBCK1):c.325C>T (p.Arg109Ter)	rs1568554654
NM_031229.4(RBCK1):c.331C>T (p.Gln111Ter)	rs746197240
NM_031229.4(RBCK1):c.49C>T (p.Arg17Ter)
NM_031229.4(RBCK1):c.582+1G>C	rs1017046170
NM_031229.4(RBCK1):c.586_596del (p.Gly196fs)	rs1487503835
NM_031229.4(RBCK1):c.663del (p.Glu222fs)	rs2122245228
NM_031229.4(RBCK1):c.701_708dup (p.Ala238fs)
NM_031229.4(RBCK1):c.724_727dup (p.Glu243fs)	rs730880329
NM_031229.4(RBCK1):c.727G>T (p.Glu243Ter)	rs727503765
NM_031229.4(RBCK1):c.745C>T (p.Gln249Ter)	rs2016260522
NM_031229.4(RBCK1):c.751C>T (p.Gln251Ter)	rs2016261486
NM_031229.4(RBCK1):c.772C>T (p.Gln258Ter)
NM_031229.4(RBCK1):c.790C>T (p.Gln264Ter)	rs587777561
NM_031229.4(RBCK1):c.896_899del (p.Glu299fs)	rs727503764
NM_031229.4(RBCK1):c.949C>T (p.Gln317Ter)	rs2122281705
NM_031229.4(RBCK1):c.994_999del (p.Cys332_Ser333del)	rs2122282189

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