List of variants reported as likely pathogenic for Phenylketonuria by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 23

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HGVS	dbSNP	gnomAD frequency
NM_000277.3(PAH):c.1238G>A (p.Arg413His)	rs79931499	0.00004
NM_000277.3(PAH):c.1123C>G (p.Gln375Glu)	rs184148104	0.00003
NM_000277.3(PAH):c.463C>T (p.Arg155Cys)	rs539743701	0.00002
NM_000277.3(PAH):c.1200-1G>A	rs62507322	0.00001
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.241A>C (p.Thr81Pro)	rs62509017	0.00001
NM_000277.3(PAH):c.442G>A (p.Gly148Ser)	rs80297647	0.00001
NM_000277.3(PAH):c.632C>A (p.Pro211Gln)	rs281865443	0.00001
NM_000277.3(PAH):c.712A>C (p.Thr238Pro)	rs199475577	0.00001
NM_000277.3(PAH):c.982A>G (p.Thr328Ala)	rs199475616	0.00001
NM_000277.3(PAH):c.1099del (p.Leu367fs)	rs62506951
NM_000277.3(PAH):c.125AAG[2] (p.Glu44del)	rs199475628
NM_000277.3(PAH):c.1355dup (p.Ter453ValextTer?)	rs199475641
NM_000277.3(PAH):c.183C>A (p.Asn61Lys)	rs199475634
NM_000277.3(PAH):c.199T>C (p.Ser67Pro)	rs5030842
NM_000277.3(PAH):c.211C>T (p.Arg71Cys)
NM_000277.3(PAH):c.226G>T (p.Glu76Ter)	rs762949770
NM_000277.3(PAH):c.400C>T (p.Gln134Ter)	rs199475680
NM_000277.3(PAH):c.510-2A>G	rs1555204750
NM_000277.3(PAH):c.632C>T (p.Pro211Leu)	rs281865443
NM_000277.3(PAH):c.722G>T (p.Arg241Leu)	rs62508730
NM_000277.3(PAH):c.890G>T (p.Arg297Leu)	rs62642939

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