ClinVar Miner

List of variants in gene APRT, GALNS studied for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
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NM_000485.2(APRT):c.-50C>A rs8191469
NM_000485.3(APRT):c.*178A>G rs4695
NM_000485.3(APRT):c.*182A>G rs8191498
NM_000485.3(APRT):c.*3A>G rs2070256
NM_000485.3(APRT):c.*47T>C rs8191497
NM_000485.3(APRT):c.90G>T (p.Ser30=) rs8191472
NM_000485.3(APRT):c.97C>T (p.Leu33=) rs8191473
NM_000512.5(GALNS):c.*224C>G rs111233947
NM_000512.5(GALNS):c.*296A>G rs79507351
NM_000512.5(GALNS):c.*367T>C rs1141390
NM_000512.5(GALNS):c.*36G>A rs11076715
NM_000512.5(GALNS):c.*524G>C rs3759946
NM_000512.5(GALNS):c.*611A>G rs1135364
NM_000512.5(GALNS):c.*652A>G rs1135366
NM_000512.5(GALNS):c.*701C>G rs77936719

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