ClinVar Miner

List of variants in gene PAH reported as benign for amino acid or protein metabolism disease with epilepsy

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP
NM_000277.3(PAH):c.*187G>A rs1801153
NM_000277.3(PAH):c.*19G>T rs372637021
NM_000277.3(PAH):c.-71A>C rs2280615
NM_000277.3(PAH):c.-81C>T rs7954004
NM_000277.3(PAH):c.1155= (p.Leu385=) rs772897
NM_000277.3(PAH):c.1242C>T (p.Tyr414=) rs1801152
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.168+19T>C rs17842947
NM_000277.3(PAH):c.500A>G (p.Asn167Ser) rs77554925
NM_000277.3(PAH):c.60+62C>T rs1522296
NM_000277.3(PAH):c.612T>C (p.Tyr204=) rs62514928
NM_000277.3(PAH):c.696= (p.Gln232=) rs1126758
NM_000277.3(PAH):c.707-7A>T rs62508624
NM_000277.3(PAH):c.735G>A (p.Val245=) rs1042503
NM_000277.3(PAH):c.772C>T (p.Leu258=) rs75065106
NM_000277.3(PAH):c.820A>G (p.Lys274Glu) rs142934616
NM_000277.3(PAH):c.837C>T (p.Pro279=) rs138355741
NM_000277.3(PAH):c.963C>T (p.Leu321=) rs61747292
NM_000277.3(PAH):c.969+43G>T rs1522306

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