ClinVar Miner

List of variants reported as pathogenic for Adenine phosphoribosyltransferase deficiency by GeneReviews

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Total variants: 7
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HGVS dbSNP
NM_000485.3(APRT):c.194A>T (p.Asp65Val) rs104894506
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.321+2dup rs281860263
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

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