List of variants in gene ADPRS reported as uncertain significance for autosomal recessive disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_017825.3(ADPRS):c.491A>G (p.Tyr164Cys)	rs139736291	0.00039
NM_017825.3(ADPRS):c.136G>T (p.Val46Phe)	rs749889837	0.00001
NM_017825.3(ADPRS):c.1038C>G (p.Tyr346Ter)	rs531916765
NM_017825.3(ADPRS):c.384G>A (p.Leu128=)	rs138995178
NM_017825.3(ADPRS):c.466C>T (p.Arg156Trp)	rs866152144
NM_017825.3(ADPRS):c.544C>T (p.His182Tyr)	rs2124055158
NM_017825.3(ADPRS):c.545A>G (p.His182Arg)
NM_017825.3(ADPRS):c.639_642del (p.Lys213fs)	rs1643491610

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