ClinVar Miner

List of variants in gene combination LOC126861615, PAH reported as not provided by DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000277.3(PAH):c.898G>T (p.Ala300Ser) rs5030853 0.00032
NM_000277.3(PAH):c.896T>G (p.Phe299Cys) rs62642933 0.00007
NM_000277.3(PAH):c.844G>A (p.Asp282Asn) rs199475582 0.00003
NM_000277.3(PAH):c.890G>A (p.Arg297His) rs62642939 0.00002
NM_000277.3(PAH):c.912+1G>A rs62514956 0.00002
NM_000277.3(PAH):c.847A>T (p.Ile283Phe) rs62517168 0.00001
NM_000277.3(PAH):c.848T>A (p.Ile283Asn) rs62508693 0.00001
NM_000277.3(PAH):c.889C>T (p.Arg297Cys) rs62642945 0.00001
NM_000277.3(PAH):c.843-2A>T rs62509019
NM_000277.3(PAH):c.845A>G (p.Asp282Gly) rs199475660
NM_000277.3(PAH):c.850T>C (p.Cys284Arg) rs199475682
NM_000277.3(PAH):c.853C>T (p.His285Tyr) rs199475636
NM_000277.3(PAH):c.856G>A (p.Glu286Lys) rs62508739
NM_000277.3(PAH):c.864G>C (p.Leu288Phe) rs62507327
NM_000277.3(PAH):c.865G>C (p.Gly289Arg) rs199475693
NM_000277.3(PAH):c.869A>G (p.His290Arg) rs62642919
NM_000277.3(PAH):c.884C>G (p.Ser295Ter) rs62642910
NM_000277.3(PAH):c.895_897del (p.Phe299del) rs62507267
NM_000277.3(PAH):c.899C>T (p.Ala300Val) rs199475609
NM_000277.3(PAH):c.907T>C (p.Ser303Pro) rs199475608
NM_000277.3(PAH):c.907T>G (p.Ser303Ala) rs199475608
NM_000277.3(PAH):c.907del (p.Ser303fs) rs62642920
NM_000277.3(PAH):c.911A>G (p.Gln304Arg) rs199475592
NM_000277.3(PAH):c.912G>A (p.Gln304=) rs199475583

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