List of variants studied for Phenylketonuria by Pars Genome Lab

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		ClinVar version:

Total variants: 14

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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.969+43G>T	rs1522306	0.36369
NM_000277.3(PAH):c.60+134A>G	rs1522295	0.34771
NM_000277.3(PAH):c.60+62C>T	rs1522296	0.34408
NM_000277.3(PAH):c.510-54G>A	rs2251905	0.32128
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.509+101A>C	rs10860933	0.18689
NM_000277.3(PAH):c.-71A>C	rs2280615	0.14554
NM_000277.3(PAH):c.-81C>T	rs7954004	0.02852
NM_000277.3(PAH):c.1218A>G (p.Ile406Met)	rs773526027	0.00002

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