ClinVar Miner

List of variants in gene PAH reported as likely benign for Phenylketonuria

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Gene type:
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Total variants: 21
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HGVS dbSNP
NM_000277.2(PAH):c.-147C>T rs62517177
NM_000277.2(PAH):c.-224G>A rs886048892
NM_000277.2(PAH):c.-456delG rs113191080
NM_000277.3(PAH):c.-71A>C rs2280615
NM_000277.3(PAH):c.-81C>T rs7954004
NM_000277.3(PAH):c.1066-31G>A rs199475685
NM_000277.3(PAH):c.1152C>G (p.Pro384=) rs281865458
NM_000277.3(PAH):c.1199+70G>A rs281865457
NM_000277.3(PAH):c.1278T>C (p.Asn426=) rs59326968
NM_000277.3(PAH):c.158G>A (p.Arg53His) rs118092776
NM_000277.3(PAH):c.169-42T>A rs281865459
NM_000277.3(PAH):c.352+11G>C rs371926082
NM_000277.3(PAH):c.442-18G>A rs149538764
NM_000277.3(PAH):c.500A>G (p.Asn167Ser) rs77554925
NM_000277.3(PAH):c.612T>C (p.Tyr204=) rs62514928
NM_000277.3(PAH):c.706+17G>T rs62508592
NM_000277.3(PAH):c.707-7A>T rs62508624
NM_000277.3(PAH):c.772C>T (p.Leu258=)
NM_000277.3(PAH):c.820A>G (p.Lys274Glu) rs142934616
NM_000277.3(PAH):c.969+7C>T rs80324017
NM_001354304.2(PAH):c.-95-385_-95-382del rs147576673

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