List of variants in gene PAH reported as likely pathogenic by Fulgent Genetics, Fulgent Genetics

Minimum submission review status:		Collection method:
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: 14

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HGVS	dbSNP	gnomAD frequency
NM_000277.3(PAH):c.165T>G (p.Phe55Leu)	rs199475598	0.00023
NM_000277.3(PAH):c.506G>A (p.Arg169His)	rs199475679	0.00020
NM_000277.3(PAH):c.261C>A (p.Ser87Arg)	rs62516151	0.00004
NM_000277.3(PAH):c.964G>A (p.Ala322Thr)	rs62514957	0.00004
NM_000277.3(PAH):c.916A>G (p.Ile306Val)	rs62642934	0.00003
NM_000277.3(PAH):c.283A>T (p.Ile95Phe)	rs62508682	0.00002
NM_000277.3(PAH):c.1259G>T (p.Arg420Met)	rs767075719	0.00001
NM_000277.3(PAH):c.212G>A (p.Arg71His)	rs62508695	0.00001
NM_000277.3(PAH):c.442-5C>G	rs62514909	0.00001
NM_000277.3(PAH):c.913-7A>G	rs62517165	0.00001
NM_000277.3(PAH):c.113TCT[1] (p.Phe39del)	rs199475565
NM_000277.3(PAH):c.500A>T (p.Asn167Ile)	rs77554925
NM_000277.3(PAH):c.712A>G (p.Thr238Ala)	rs199475577
NM_000277.3(PAH):c.806T>A (p.Ile269Asn)	rs199475644

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