ClinVar Miner

List of variants studied for dihydropteridine reductase deficiency by OMIM

Included ClinVar conditions (1):
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000320.3(QDPR):c.68G>A (p.Gly23Asp) rs104893863 0.00001
NM_000320.3(QDPR):c.106T>C (p.Trp36Arg) rs104893865
NM_000320.3(QDPR):c.270G>A (p.Trp90Ter) rs104893867
NM_000320.3(QDPR):c.322T>G (p.Trp108Gly) rs104893864
NM_000320.3(QDPR):c.366_368dup (p.Thr123dup) rs2108993008
NM_000320.3(QDPR):c.437-429A>G rs2108987974
NM_000320.3(QDPR):c.449A>G (p.Tyr150Cys) rs104893866

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