ClinVar Miner

List of variants reported as uncertain significance for BH4-deficient hyperphenylalaninemia A by Invitae

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_000317.3(PTS):c.17G>T (p.Gly6Val) rs138154701 0.00031
NM_000317.3(PTS):c.164-672C>T rs1030849527 0.00004
NM_000317.3(PTS):c.151C>T (p.His51Tyr) rs780284884 0.00003
NM_000317.3(PTS):c.106A>G (p.Asn36Asp) rs1374807422 0.00001
NM_000317.3(PTS):c.211A>G (p.Met71Val) rs1296871450 0.00001
NM_000317.3(PTS):c.22C>T (p.Arg8Cys) rs1859865574 0.00001
NM_000317.3(PTS):c.292C>T (p.Pro98Ser) rs1859964687 0.00001
NM_000317.3(PTS):c.360A>T (p.Lys120Asn) rs1859970916 0.00001
NC_000011.9:g.(?_111171709)_(112104278_?)dup
NM_000317.3(PTS):c.105A>C (p.Glu35Asp)
NM_000317.3(PTS):c.11A>G (p.Glu4Gly)
NM_000317.3(PTS):c.130A>G (p.Asn44Asp)
NM_000317.3(PTS):c.136C>A (p.Pro46Thr) rs2135408262
NM_000317.3(PTS):c.148G>A (p.Gly50Arg) rs922940879
NM_000317.3(PTS):c.149G>A (p.Gly50Glu) rs2135408273
NM_000317.3(PTS):c.158A>C (p.Tyr53Ser) rs2135408283
NM_000317.3(PTS):c.164-37dup
NM_000317.3(PTS):c.186G>A (p.Glu62=) rs189051075
NM_000317.3(PTS):c.193C>T (p.Pro65Ser)
NM_000317.3(PTS):c.196G>A (p.Ala66Thr)
NM_000317.3(PTS):c.209T>A (p.Val70Asp) rs1592880489
NM_000317.3(PTS):c.274A>C (p.Asn92His) rs1859964367
NM_000317.3(PTS):c.281A>G (p.Asp94Gly) rs1057517811
NM_000317.3(PTS):c.356A>G (p.Gln119Arg)
NM_000317.3(PTS):c.364C>A (p.Leu122Ile)
NM_000317.3(PTS):c.429A>C (p.Lys143Asn) rs1555198513
NM_000317.3(PTS):c.47G>A (p.Arg16His)
NM_000317.3(PTS):c.83+5G>A
NM_000317.3(PTS):c.83+5G>T

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