ClinVar Miner

List of variants in gene combination APRT, GALNS reported as likely benign for adenine phosphoribosyltransferase deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_000485.2(APRT):c.-50C>A rs8191469
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.*524G>C rs3759946

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