ClinVar Miner

List of variants reported as benign for dihydropteridine reductase deficiency by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000320.3(QDPR):c.396G>A (p.Leu132=) rs2597775 0.28406
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.199-16dup rs1277522602
NM_000320.3(QDPR):c.630-20del rs746771741
NM_000320.3(QDPR):c.630-20dup

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