ClinVar Miner

List of variants in gene PAH reported as likely pathogenic by Myriad Genetics, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786 0.00032
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152 0.00029
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00022
NM_000277.3(PAH):c.1045T>C (p.Ser349Pro) rs62508646 0.00008
NM_000277.3(PAH):c.1123C>G (p.Gln375Glu) rs184148104 0.00003
NM_000277.3(PAH):c.505C>T (p.Arg169Cys) rs281865440 0.00001
NM_000277.3(PAH):c.1081A>T (p.Lys361Ter)
NM_000277.3(PAH):c.1087A>T (p.Lys363Ter)
NM_000277.3(PAH):c.1111A>T (p.Lys371Ter)
NM_000277.3(PAH):c.120_121del (p.Leu41fs)
NM_000277.3(PAH):c.148A>T (p.Lys50Ter)
NM_000277.3(PAH):c.337A>T (p.Lys113Ter)
NM_000277.3(PAH):c.365_366delinsT (p.Pro122fs)
NM_000277.3(PAH):c.440del (p.Pro147fs)
NM_000277.3(PAH):c.467del (p.Ala156fs)
NM_000277.3(PAH):c.527G>A (p.Arg176Gln) rs74486803
NM_000277.3(PAH):c.535_536del (p.Tyr179fs)
NM_000277.3(PAH):c.640G>T (p.Glu214Ter)
NM_000277.3(PAH):c.676del (p.Gln226fs)
NM_000277.3(PAH):c.693_694del (p.Gln232fs)
NM_000277.3(PAH):c.805A>C (p.Ile269Leu) rs62508692

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