ClinVar Miner

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

Included ClinVar conditions (161):
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Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP
NM_031229.4(RBCK1):c.1054C>T (p.Arg352Ter) rs780854072
NM_031229.4(RBCK1):c.1112G>T (p.Cys371Phe) rs1555787599
NM_031229.4(RBCK1):c.1160A>G (p.Asn387Ser) rs566912235
NM_031229.4(RBCK1):c.121_122del (p.Leu41fs) rs727503763
NM_031229.4(RBCK1):c.1308+1G>T rs1555787903
NM_031229.4(RBCK1):c.1411G>A (p.Glu471Lys) rs1342598444
NM_031229.4(RBCK1):c.325C>T (p.Arg109Ter) rs1568554654
NM_031229.4(RBCK1):c.331C>T (p.Gln111Ter)
NM_031229.4(RBCK1):c.518del (p.Pro173fs)
NM_031229.4(RBCK1):c.553C>T (p.Gln185Ter) rs727503762
NM_031229.4(RBCK1):c.582+1G>C rs1017046170
NM_031229.4(RBCK1):c.586_596del (p.Gly196fs)
NM_031229.4(RBCK1):c.663del (p.Glu222fs)
NM_031229.4(RBCK1):c.697_703dup (p.Glu235fs) rs730880330
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.790C>T (p.Gln264Ter) rs587777561
NM_031229.4(RBCK1):c.896_899del (p.Glu299fs) rs727503764
NM_031229.4(RBCK1):c.949C>T (p.Gln317Ter)

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