List of variants reported as likely benign for adenine phosphoribosyltransferase deficiency

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000485.2(APRT):c.-50C>A	rs8191469	0.06915
NM_000485.3(APRT):c.*3A>G	rs2070256	0.05786
NM_000512.5(GALNS):c.*524G>C	rs3759946	0.04660
NM_000512.5(GALNS):c.*296A>G	rs79507351	0.02153
NM_000485.3(APRT):c.97C>T (p.Leu33=)	rs8191473	0.01977
NM_000485.3(APRT):c.*47T>C	rs8191497	0.01906
NM_000512.5(GALNS):c.*224C>G	rs111233947	0.01437
NM_000485.3(APRT):c.90G>T (p.Ser30=)	rs8191472	0.01050
NM_030928.4(CDT1):c.1521G>A (p.Pro507=)	rs139633564	0.00773
NM_000485.3(APRT):c.162C>T (p.His54=)	rs145490332	0.00298
NM_000485.3(APRT):c.459C>T (p.Cys153=)	rs375131814	0.00004
NM_000485.3(APRT):c.385C>T (p.Leu129=)	rs376129456	0.00001
NM_000485.3(APRT):c.*178A>C	rs4695
NM_000485.3(APRT):c.400+14C>T	rs373048958

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