ClinVar Miner

List of variants studied for carbohydrate metabolism disease by Phosphorus, Inc.

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
Download table as spreadsheet
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309
NM_000152.5(GAA):c.*3G>A rs1800317
NM_000152.5(GAA):c.1203G>A (p.Gln401=) rs1800304
NM_000152.5(GAA):c.1374C>T (p.Tyr458=) rs1800305
NM_000152.5(GAA):c.1581G>A (p.Arg527=) rs1042396
NM_000152.5(GAA):c.2446G>A (p.Val816Ile) rs1800314
NM_000152.5(GAA):c.2780C>T (p.Thr927Ile) rs1800315
NM_000152.5(GAA):c.324T>C (p.Cys108=) rs1800300
NM_000152.5(GAA):c.596A>G (p.His199Arg) rs1042393
NM_000152.5(GAA):c.642C>T (p.Ser214=) rs1800301
NM_000152.5(GAA):c.858+7_858+8insAGCGGGC rs3071247
NM_000152.5(GAA):c.921A>T (p.Ala307=) rs1800303
NM_000642.3(AGL):c.-10A>G rs2307130
NM_000642.3(AGL):c.2812+11G>A rs555929
NM_000642.3(AGL):c.3758G>A (p.Arg1253His) rs12043139
NM_000642.3(AGL):c.686A>G (p.Gln229Arg) rs17121403
NM_000642.3(AGL):c.894C>T (p.Leu298=) rs2230306

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.