ClinVar Miner

List of variants in gene combination APRT, GALNS reported as likely benign for carbohydrate metabolism disease

Included ClinVar conditions (304):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000485.3(APRT):c.*3A>G rs2070256 0.05786
NM_000512.5(GALNS):c.*524G>C rs3759946 0.04660
NM_000512.5(GALNS):c.*296A>G rs79507351 0.02153
NM_000485.3(APRT):c.97C>T (p.Leu33=) rs8191473 0.01977
NM_000485.3(APRT):c.*47T>C rs8191497 0.01906
NM_000512.5(GALNS):c.*224C>G rs111233947 0.01437
NM_000485.3(APRT):c.90G>T (p.Ser30=) rs8191472 0.01050
NM_000485.3(APRT):c.*182A>G rs8191498 0.00599

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