List of variants reported as benign for Phenylketonuria by Invitae

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Total variants: 28

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HGVS	dbSNP	gnomAD frequency
NM_000277.3(PAH):c.1155C>G (p.Leu385=)	rs772897	0.84953
NM_000277.3(PAH):c.696G>A (p.Gln232=)	rs1126758	0.64991
NM_000277.3(PAH):c.441+47C>T	rs1718301	0.37849
NM_000277.3(PAH):c.696= (p.Gln232=)	rs1126758	0.35009
NM_000277.3(PAH):c.353-22C>T	rs2037639	0.23047
NM_000277.3(PAH):c.168+19T>C	rs17842947	0.21168
NM_000277.3(PAH):c.735G>A (p.Val245=)	rs1042503	0.19782
NM_000277.3(PAH):c.1155= (p.Leu385=)	rs772897	0.15047
NM_000277.3(PAH):c.1278T>C (p.Asn426=)	rs59326968	0.04425
NM_000277.3(PAH):c.707-7A>T	rs62508624	0.02868
NM_000277.3(PAH):c.963C>T (p.Leu321=)	rs61747292	0.01582
NM_000277.3(PAH):c.1242C>T (p.Tyr414=)	rs1801152	0.00779
NM_000277.3(PAH):c.820A>G (p.Lys274Glu)	rs142934616	0.00496
NM_000277.3(PAH):c.772C>T (p.Leu258=)	rs75065106	0.00272
NM_000277.3(PAH):c.1315+20C>T	rs190655222	0.00250
NM_000277.3(PAH):c.441+20G>A	rs111842675	0.00229
NM_000277.3(PAH):c.*19G>T	rs372637021	0.00103
NM_000277.3(PAH):c.158G>A (p.Arg53His)	rs118092776	0.00091
NM_000277.3(PAH):c.706+17G>T	rs62508592	0.00087
NM_000277.3(PAH):c.969+20G>A	rs201083544	0.00035
NM_000277.3(PAH):c.837C>T (p.Pro279=)	rs138355741	0.00008
NM_000277.3(PAH):c.1065+39G>T	rs62510582	0.00002
NM_000277.3(PAH):c.612T>C (p.Tyr204=)	rs62514928	0.00001
NM_000277.3(PAH):c.330A>G (p.Ser110=)
NM_000277.3(PAH):c.500A>G (p.Asn167Ser)	rs77554925
NM_000277.3(PAH):c.510-20_510-18dup	rs398123293
NM_000277.3(PAH):c.707-59C>G
NM_000277.3(PAH):c.912+18dup

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