ClinVar Miner

List of variants reported as likely benign for carbohydrate metabolism disease by ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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NM_000152.5(GAA):c.1356C>T (p.Ala452=) rs757893858
NM_000152.5(GAA):c.1552-13G>A rs111261964
NM_000152.5(GAA):c.1725C>T (p.Tyr575=) rs112517802
NM_000152.5(GAA):c.1830C>T (p.Ala610=) rs61736896
NM_000152.5(GAA):c.2647-8C>T rs139201641
NM_000152.5(GAA):c.447G>A (p.Thr149=) rs2289536
NM_000152.5(GAA):c.676C>G (p.Leu226Val) rs113085339
NM_000152.5(GAA):c.692+17G>C rs199559553
NM_000152.5(GAA):c.915G>A (p.Gly305=) rs150343359
NM_001040716.2(PC):c.1446C>T (p.Asp482=) rs145891535

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