ClinVar Miner

List of variants in gene QDPR reported as benign for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000320.3(QDPR):c.*510C>T rs1031327 0.64808
NM_000320.3(QDPR):c.*468A>C rs699460 0.64794
NM_000320.3(QDPR):c.*220T>C rs1049581 0.64638
NM_000320.3(QDPR):c.*221G>A rs1049582 0.64635
NM_000320.3(QDPR):c.*690A>G rs1031326 0.61178
NM_000320.3(QDPR):c.396G>A (p.Leu132=) rs2597775 0.28406
NM_000320.3(QDPR):c.*622T>C rs10604 0.28366
NM_000320.3(QDPR):c.*403A>G rs1049600 0.10881
NM_000320.3(QDPR):c.*408C>T rs1049601 0.10880
NM_000320.3(QDPR):c.345G>A (p.Ser115=) rs3733570 0.06567
NM_000320.3(QDPR):c.255C>T (p.Cys85=) rs12645938 0.03464
NM_000320.3(QDPR):c.436+19A>G rs112111831 0.00851
NM_000320.3(QDPR):c.630-17T>C rs201581320 0.00193
NM_000320.3(QDPR):c.588G>C (p.Glu196Asp) rs112209600 0.00046
NM_000320.3(QDPR):c.436+16C>T rs187812666 0.00004
NM_000320.3(QDPR):c.*682A>G rs699459
NM_000320.3(QDPR):c.199-16dup rs1277522602
NM_000320.3(QDPR):c.630-20del rs746771741
NM_000320.3(QDPR):c.630-20dup

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