ClinVar Miner

List of variants reported as benign for carbohydrate metabolism disease by Counsyl

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000030.3(AGXT):c.165+40A>C rs57017537
NM_000152.5(GAA):c.1888+21G>A rs2304837
NM_000152.5(GAA):c.2040+69A>G rs2304834
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000199.5(SGSH):c.664-36T>C rs35087113

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