ClinVar Miner

List of variants reported as benign for Adenine phosphoribosyltransferase deficiency by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_000485.3(APRT):c.*178A>G rs4695
NM_000512.5(GALNS):c.*367T>C rs1141390
NM_000512.5(GALNS):c.*36G>A rs11076715
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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