List of variants in gene APRT, GALNS studied for adenine phosphoribosyltransferase deficiency

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000512.5(GALNS):c.*367T>C	rs1141390	0.33207
NM_000512.5(GALNS):c.*611A>G	rs1135364	0.26293
NM_000512.5(GALNS):c.*36G>A	rs11076715	0.23846
NM_000512.5(GALNS):c.*652A>G	rs1135366	0.23189
NM_000512.5(GALNS):c.*701C>G	rs77936719	0.21621
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_000485.3(APRT):c.*182A>G	rs8191498	0.00599
NM_000485.3(APRT):c.*178A>G	rs4695
NM_000512.5(GALNS):c.*212C>A	rs117754023

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