ClinVar Miner

List of variants in gene ADPRS studied for autosomal recessive disease

Included ClinVar conditions (1198):
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Gene type:
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Total variants: 22
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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.1004T>G (p.Val335Gly) rs201735454 0.00011
NM_017825.3(ADPRS):c.136G>T (p.Val46Phe) rs749889837 0.00001
NM_017825.3(ADPRS):c.1000C>T (p.Gln334Ter) rs1557734377
NM_017825.3(ADPRS):c.100G>A (p.Asp34Asn) rs1557732234
NM_017825.3(ADPRS):c.1038C>G (p.Tyr346Ter) rs531916765
NM_017825.3(ADPRS):c.146del (p.Thr49fs)
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.292del (p.Val98fs) rs1557733367
NM_017825.3(ADPRS):c.316C>T (p.Gln106Ter) rs368433666
NM_017825.3(ADPRS):c.384G>A (p.Leu128=) rs138995178
NM_017825.3(ADPRS):c.414_418del (p.Ala139fs) rs1557733597
NM_017825.3(ADPRS):c.466C>T (p.Arg156Trp) rs866152144
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.544C>T (p.His182Tyr) rs2124055158
NM_017825.3(ADPRS):c.545A>G (p.His182Arg)
NM_017825.3(ADPRS):c.564C>A (p.Tyr188Ter) rs2124055267
NM_017825.3(ADPRS):c.639_642del (p.Lys213fs) rs1643491610
NM_017825.3(ADPRS):c.744_746del (p.Lys248_Ile249delinsAsn) rs1570013257

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