List of variants reported as benign for Purine-nucleoside phosphorylase deficiency

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Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_000270.3(PNP):c.*728T>C	rs1760933	0.96437
NM_000270.3(PNP):c.*1391T>C	rs1079375	0.28644
NM_000270.4(PNP):c.285+10A>G	rs1713420	0.23096
NM_000270.3(PNP):c.*1146A>C	rs56141845	0.21378
NM_000270.4(PNP):c.151G>A (p.Gly51Ser)	rs1049564	0.20682
NM_000270.4(PNP):c.171C>T (p.Pro57=)	rs1130650	0.20563
NM_000270.4(PNP):c.60C>T (p.His20=)	rs1049562	0.17967
NM_000270.3(PNP):c.*1233T>C	rs1079376	0.15641
NM_000270.4(PNP):c.*254C>T	rs7785	0.05560
NM_000270.3(PNP):c.*811G>A	rs17883795	0.04593
NM_000270.3(PNP):c.*1057T>C	rs60379427	0.04093
NM_000270.3(PNP):c.*595C>T	rs17878900	0.03849
NM_000270.3(PNP):c.*816C>T	rs79538439	0.01512
NM_000270.3(PNP):c.*1198T>C	rs78097234	0.01373
NM_000270.4(PNP):c.-83C>G	rs113248050	0.01164
NM_000270.4(PNP):c.285+19T>C	rs61730857	0.00874
NM_000270.4(PNP):c.679G>A (p.Val227Ile)	rs61755047	0.00663
NM_000270.4(PNP):c.649G>A (p.Val217Ile)	rs138702206	0.00601
NM_000270.4(PNP):c.-91G>T	rs115464597	0.00526
NM_000270.3(PNP):c.*1272T>C	rs112849922	0.00520
NM_000270.4(PNP):c.12-18A>T	rs117497269	0.00314
NM_000270.4(PNP):c.-96G>A	rs17881206	0.00309
NM_000270.3(PNP):c.*1342A>T	rs60605707	0.00120
NM_000270.4(PNP):c.653-4T>C	rs199866228	0.00099
NM_000270.4(PNP):c.461+16C>T	rs138234455	0.00021
NM_000270.4(PNP):c.12-10del	rs774502183
NM_000270.4(PNP):c.12-3del
NM_000270.4(PNP):c.461+25del
NM_000270.4(PNP):c.461+25dup	rs201831232

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