ClinVar Miner

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

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 46
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HGVS dbSNP
NM_031229.4(RBCK1):c.1017G>A (p.Arg339=)
NM_031229.4(RBCK1):c.1030-4G>A rs149038161
NM_031229.4(RBCK1):c.1164G>A (p.Glu388=) rs750877383
NM_031229.4(RBCK1):c.1188C>T (p.His396=) rs766618284
NM_031229.4(RBCK1):c.1272C>T (p.Asn424=)
NM_031229.4(RBCK1):c.1293G>A (p.Thr431=)
NM_031229.4(RBCK1):c.1326C>T (p.Gly442=) rs1437187965
NM_031229.4(RBCK1):c.1344C>T (p.Pro448=)
NM_031229.4(RBCK1):c.1356C>T (p.Ile452=)
NM_031229.4(RBCK1):c.1377C>T (p.Gly459=)
NM_031229.4(RBCK1):c.1380C>T (p.Cys460=)
NM_031229.4(RBCK1):c.1395C>T (p.Cys465=)
NM_031229.4(RBCK1):c.1410C>T (p.Thr470=)
NM_031229.4(RBCK1):c.1431G>A (p.Lys477=)
NM_031229.4(RBCK1):c.1446C>T (p.Gly482=)
NM_031229.4(RBCK1):c.1488G>A (p.Arg496=)
NM_031229.4(RBCK1):c.1530C>T (p.His510=)
NM_031229.4(RBCK1):c.171G>A (p.Leu57=)
NM_031229.4(RBCK1):c.180C>T (p.Ser60=) rs757115540
NM_031229.4(RBCK1):c.204C>T (p.Thr68=) rs189407509
NM_031229.4(RBCK1):c.228C>G (p.Arg76=)
NM_031229.4(RBCK1):c.246G>A (p.Ala82=) rs148091459
NM_031229.4(RBCK1):c.354G>A (p.Gly118=)
NM_031229.4(RBCK1):c.366T>C (p.Asn122=)
NM_031229.4(RBCK1):c.450G>T (p.Arg150=)
NM_031229.4(RBCK1):c.461-4A>G
NM_031229.4(RBCK1):c.477C>T (p.Asp159=)
NM_031229.4(RBCK1):c.492G>A (p.Pro164=)
NM_031229.4(RBCK1):c.513C>G (p.Gly171=)
NM_031229.4(RBCK1):c.513C>T (p.Gly171=)
NM_031229.4(RBCK1):c.531C>G (p.Val177=)
NM_031229.4(RBCK1):c.531C>T (p.Val177=) rs375018967
NM_031229.4(RBCK1):c.600C>T (p.Pro200=)
NM_031229.4(RBCK1):c.654G>A (p.Arg218=) rs149541936
NM_031229.4(RBCK1):c.663C>G (p.Pro221=)
NM_031229.4(RBCK1):c.687A>G (p.Ser229=)
NM_031229.4(RBCK1):c.696C>G (p.Pro232=)
NM_031229.4(RBCK1):c.746A>G (p.Gln249Arg) rs763971799
NM_031229.4(RBCK1):c.757-6G>T
NM_031229.4(RBCK1):c.782A>G (p.Asn261Ser) rs377605009
NM_031229.4(RBCK1):c.855C>T (p.Cys285=) rs776856644
NM_031229.4(RBCK1):c.861G>A (p.Ser287=)
NM_031229.4(RBCK1):c.876C>T (p.Gly292=) rs767353266
NM_031229.4(RBCK1):c.903G>T (p.Leu301=) rs1228337215
NM_031229.4(RBCK1):c.917+9C>T rs752577528
NM_031229.4(RBCK1):c.933C>T (p.Gly311=)

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