ClinVar Miner

List of variants studied for dihydropteridine reductase deficiency by Medical Genetics Research Center, Mashhad University of Medical Sciences

Included ClinVar conditions (1):
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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000320.3(QDPR):c.79G>T (p.Val27Leu) rs762772317 0.00001
NM_000320.3(QDPR):c.383_407del (p.Glu128fs) rs2108992958
NM_000320.3(QDPR):c.488G>A (p.Ser163Asn) rs2108987681

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