ClinVar Miner

List of variants studied for Adenine phosphoribosyltransferase deficiency

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Total variants: 34
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HGVS dbSNP
APRT, 254-BP DEL AND 8-BP INS
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.194A>T (p.Asp65Val) rs104894506
NM_000485.3(APRT):c.216C>A (p.Gly72=) rs377050219
NM_000485.3(APRT):c.258_261dup (p.Lys88fs) rs281860265
NM_000485.3(APRT):c.294G>A (p.Trp98Ter) rs104894507
NM_000485.3(APRT):c.297C>T (p.Ala99=) rs281860262
NM_000485.3(APRT):c.316G>A (p.Gly106Arg) rs780098835
NM_000485.3(APRT):c.321+2dup rs281860263
NM_000485.3(APRT):c.329T>C (p.Leu110Pro) rs104894508
NM_000485.3(APRT):c.400+2dup rs745594160
NM_000485.3(APRT):c.407T>C (p.Met136Thr) rs28999113
NM_000485.3(APRT):c.448G>T (p.Val150Phe) rs281860266
NM_000485.3(APRT):c.518_520TCT[1] (p.Phe174del) rs121912681
NM_000485.3(APRT):c.542G>C (p.Ter181Ser) rs387906584
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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