ClinVar Miner

List of variants reported as pathogenic for BH4-deficient hyperphenylalaninemia A by Baylor Genetics

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000317.3(PTS):c.317C>T (p.Thr106Met) rs200712908 0.00010
NM_000317.3(PTS):c.84-291A>G rs1480995114 0.00003
NM_000317.3(PTS):c.84-3C>G rs1230781262 0.00002
NM_000317.3(PTS):c.155A>G (p.Asn52Ser) rs104894275 0.00001
NM_000317.3(PTS):c.200C>T (p.Thr67Met) rs370340361 0.00001
NM_000317.3(PTS):c.260C>T (p.Pro87Leu) rs765406631 0.00001
NM_000317.3(PTS):c.286G>A (p.Asp96Asn) rs104894280 0.00001
NM_000317.3(PTS):c.297C>A (p.Tyr99Ter) rs145882709 0.00001
NM_000317.3(PTS):c.118_121del (p.Phe40fs) rs747260038
NM_000317.3(PTS):c.146A>G (p.His49Arg) rs750229518
NM_000317.3(PTS):c.166G>A (p.Val56Met) rs104894277
NM_000317.3(PTS):c.166GTG[1] (p.Val57del) rs770387277
NM_000317.3(PTS):c.186+1G>A
NM_000317.3(PTS):c.238A>G (p.Met80Val) rs1057517810
NM_000317.3(PTS):c.245A>G (p.Glu82Gly)
NM_000317.3(PTS):c.259C>T (p.Pro87Ser) rs104894276
NM_000317.3(PTS):c.272A>G (p.Lys91Arg) rs761285716
NM_000317.3(PTS):c.276T>A (p.Asn92Lys)
NM_000317.3(PTS):c.308T>C (p.Val103Ala) rs1555198459
NM_000317.3(PTS):c.315-2A>G rs1555198483
NM_000317.3(PTS):c.331G>A (p.Ala111Thr) rs1367077861
NM_000317.3(PTS):c.379C>T (p.Leu127Phe) rs1859971515
NM_000317.3(PTS):c.393del (p.Val132fs) rs780332520
NM_000317.3(PTS):c.73C>T (p.Arg25Ter) rs1167104933

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