List of variants in gene PAH reported as not provided for Phenylketonuria

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp)	rs5030858	0.00092
NM_000277.3(PAH):c.1315+1G>A	rs5030861	0.00040
NM_000277.3(PAH):c.194T>C (p.Ile65Thr)	rs75193786	0.00032
NM_000277.3(PAH):c.1066-11G>A	rs5030855	0.00028
NM_000277.3(PAH):c.782G>A (p.Arg261Gln)	rs5030849	0.00022
NM_000277.3(PAH):c.842C>T (p.Pro281Leu)	rs5030851	0.00010
NM_000277.3(PAH):c.473G>A (p.Arg158Gln)	rs5030843	0.00007
NM_000277.3(PAH):c.155del (p.Leu52fs)	rs281865165

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