List of variants reported as likely pathogenic for Dihydropteridine reductase deficiency by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000320.3(QDPR):c.546-2A>G	rs1577184852	0.00001
NM_000320.3(QDPR):c.105+2T>A
NM_000320.3(QDPR):c.105G>C (p.Trp35Cys)
NM_000320.3(QDPR):c.106-1G>C	rs1428018512
NM_000320.3(QDPR):c.265G>C (p.Gly89Arg)	rs1184906056
NM_000320.3(QDPR):c.445G>A (p.Gly149Arg)	rs1028029163
NM_000320.3(QDPR):c.445G>C (p.Gly149Arg)
NM_000320.3(QDPR):c.515C>T (p.Pro172Leu)
NM_000320.3(QDPR):c.546-1G>A	rs995264302
NM_000320.3(QDPR):c.635T>C (p.Phe212Ser)

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