List of variants in gene APRT reported as uncertain significance for adenine phosphoribosyltransferase deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000485.3(APRT):c.*152C>T	rs137965502	0.00095
NM_000485.3(APRT):c.*83G>A	rs748634790	0.00054
NM_000485.3(APRT):c.376G>A (p.Val126Met)	rs75205792	0.00022
NM_000485.3(APRT):c.346G>A (p.Ala116Thr)	rs201944035	0.00021
NM_000485.3(APRT):c.411C>T (p.Asn137=)	rs142472789	0.00019
NM_000485.3(APRT):c.276G>A (p.Leu92=)	rs372253865	0.00015
NM_000485.3(APRT):c.216C>A (p.Gly72=)	rs377050219	0.00006
NM_000485.3(APRT):c.316G>A (p.Gly106Arg)	rs780098835	0.00006
NM_000485.3(APRT):c.364A>C (p.Arg122=)	rs35095508	0.00006
NM_000485.3(APRT):c.482C>T (p.Ser161Leu)	rs766909450	0.00005
NM_000485.3(APRT):c.175G>A (p.Asp59Asn)	rs768268700	0.00004
NM_000485.3(APRT):c.*122C>T	rs769271336	0.00003
NM_000485.3(APRT):c.*210A>G	rs1184700495	0.00003
NM_000485.3(APRT):c.250G>A (p.Val84Met)	rs200392753	0.00003
NM_000485.3(APRT):c.460G>A (p.Val154Met)	rs141669365	0.00003
NM_000485.3(APRT):c.401-15C>T	rs1449537193
NM_000485.3(APRT):c.433C>A (p.Arg145Ser)	rs550667813

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