ClinVar Miner

List of variants reported as benign for Dihydropteridine reductase deficiency

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Total variants: 23
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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.-47C>G rs2244788 0.40252
NM_000320.3(QDPR):c.396G>A (p.Leu132=) rs2597775 0.28406
NM_000320.3(QDPR):c.*622T>C rs10604 0.28366
NM_000320.2(QDPR):c.-81delC rs67496406 0.22322
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.96C>T (p.Ala32=) rs2518608 0.00789
NM_000320.3(QDPR):c.105+17G>A rs149373480 0.00682
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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