List of variants in gene PAH reported as pathogenic by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

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: 17

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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.1208C>T (p.Ala403Val)	rs5030857	0.00056
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)	rs62642937	0.00036
NM_000277.3(PAH):c.688G>A (p.Val230Ile)	rs62516152	0.00030
NM_000277.3(PAH):c.143T>C (p.Leu48Ser)	rs5030841	0.00020
NM_000277.3(PAH):c.782G>A (p.Arg261Gln)	rs5030849	0.00015
NM_000277.3(PAH):c.842C>T (p.Pro281Leu)	rs5030851	0.00010
NM_000277.3(PAH):c.721C>T (p.Arg241Cys)	rs76687508	0.00009
NM_000277.3(PAH):c.1243G>A (p.Asp415Asn)	rs62644499	0.00008
NM_000277.3(PAH):c.814G>T (p.Gly272Ter)	rs62514952	0.00006
NM_000277.3(PAH):c.311C>A (p.Ala104Asp)	rs62642929	0.00003
NM_000277.3(PAH):c.1066-3C>T	rs62507344	0.00002
NM_000277.3(PAH):c.442-5C>G	rs62514909	0.00001
NM_000277.3(PAH):c.781C>T (p.Arg261Ter)	rs5030850	0.00001
NM_000277.3(PAH):c.113TCT[1] (p.Phe39del)	rs199475565
NM_000277.3(PAH):c.529G>A (p.Val177Met)	rs199475602
NM_000277.3(PAH):c.722G>A (p.Arg241His)	rs62508730

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