ClinVar Miner

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

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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NM_031229.4(RBCK1):c.1257C>T (p.Ala419=)
NM_031229.4(RBCK1):c.144G>A (p.Glu48=) rs41281892
NM_031229.4(RBCK1):c.1453-10C>T rs112086441
NM_031229.4(RBCK1):c.150C>T (p.Ser50=) rs149008463
NM_031229.4(RBCK1):c.261+15G>T rs11698154
NM_031229.4(RBCK1):c.738G>T (p.Ala246=)
NM_031229.4(RBCK1):c.756+3G>A rs146804136

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