ClinVar Miner

List of variants in gene PAH reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 20
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HGVS dbSNP
NM_000277.3(PAH):c.1002C>T (p.Cys334=) rs140243918
NM_000277.3(PAH):c.1003A>G (p.Lys335Glu) rs886042068
NM_000277.3(PAH):c.1065+3A>G rs62508689
NM_000277.3(PAH):c.1156T>C (p.Tyr386His) rs199475691
NM_000277.3(PAH):c.1198A>C (p.Arg400=) rs199475593
NM_000277.3(PAH):c.1210G>C (p.Ala404Pro) rs886043085
NM_000277.3(PAH):c.1286A>C (p.Gln429Pro) rs794727047
NM_000277.3(PAH):c.169G>A (p.Glu57Lys) rs140945592
NM_000277.3(PAH):c.310_318del (p.Ala104_Val106del) rs398123291
NM_000277.3(PAH):c.356C>T (p.Pro119Leu) rs374999809
NM_000277.3(PAH):c.464G>C (p.Arg155Pro) rs199475663
NM_000277.3(PAH):c.500A>T (p.Asn167Ile) rs77554925
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679
NM_000277.3(PAH):c.520A>G (p.Ile174Val) rs199475632
NM_000277.3(PAH):c.535T>A (p.Tyr179Asn) rs199475671
NM_000277.3(PAH):c.590T>G (p.Leu197Trp) rs886042078
NM_000277.3(PAH):c.607T>A (p.Cys203Ser) rs1555204715
NM_000277.3(PAH):c.716G>T (p.Gly239Val) rs62507283
NM_000277.3(PAH):c.841C>T (p.Pro281Ser) rs199475654
NM_000277.3(PAH):c.983C>T (p.Thr328Ile) rs886042096

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