ClinVar Miner

List of variants studied for Adenine phosphoribosyltransferase deficiency by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP
NM_000485.2(APRT):c.-50C>A rs8191469
NM_000485.3(APRT):c.*122C>T rs769271336
NM_000485.3(APRT):c.*152C>T rs137965502
NM_000485.3(APRT):c.*178A>C rs4695
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.*83G>A rs748634790
NM_000485.3(APRT):c.162C>T (p.His54=) rs145490332
NM_000485.3(APRT):c.216C>A (p.Gly72=) rs377050219
NM_000485.3(APRT):c.316G>A (p.Gly106Arg) rs780098835
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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