List of variants in gene ADPRS reported as likely pathogenic 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)
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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_017825.3(ADPRS):c.1038C>G (p.Tyr346Ter)	rs531916765
NM_017825.3(ADPRS):c.166C>T (p.Gln56Ter)
NM_017825.3(ADPRS):c.169_170del (p.Leu58fs)	rs1570008399
NM_017825.3(ADPRS):c.235A>C (p.Thr79Pro)	rs1557733311
NM_017825.3(ADPRS):c.316C>T (p.Gln106Ter)	rs368433666
NM_017825.3(ADPRS):c.485T>C (p.Leu162Pro)	rs1570012058
NM_017825.3(ADPRS):c.530C>T (p.Ser177Leu)	rs200626873
NM_017825.3(ADPRS):c.564C>A (p.Tyr188Ter)	rs2124055267
NM_017825.3(ADPRS):c.744_746del (p.Lys248_Ile249delinsAsn)	rs1570013257

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