ClinVar Miner

List of variants reported as uncertain significance for adenine phosphoribosyltransferase deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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NM_000485.3(APRT):c.*122C>T rs769271336
NM_000485.3(APRT):c.*152C>T rs137965502
NM_000485.3(APRT):c.*182A>G rs8191498
NM_000485.3(APRT):c.*83G>A rs748634790
NM_000485.3(APRT):c.216C>A (p.Gly72=) rs377050219
NM_000485.3(APRT):c.276G>A (p.Leu92=)
NM_000485.3(APRT):c.316G>A (p.Gly106Arg) rs780098835
NM_000485.3(APRT):c.346G>A (p.Ala116Thr)
NM_000485.3(APRT):c.364A>C (p.Arg122=)
NM_000485.3(APRT):c.411C>T (p.Asn137=)
NM_000485.3(APRT):c.433C>A (p.Arg145Ser)

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