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

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: 33

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HGVS	dbSNP	gnomAD frequency
NM_000277.3(PAH):c.1238G>A (p.Arg413His)	rs79931499	0.00005
NM_000277.3(PAH):c.1074A>T (p.Leu358Phe)	rs376480977	0.00003
NM_000277.3(PAH):c.1123C>G (p.Gln375Glu)	rs184148104	0.00001
NM_000277.3(PAH):c.1200-1G>A	rs62507322	0.00001
NM_000277.3(PAH):c.1240T>C (p.Tyr414His)	rs281865437	0.00001
NM_000277.3(PAH):c.1259G>T (p.Arg420Met)	rs767075719	0.00001
NM_000277.3(PAH):c.211C>T (p.Arg71Cys)	rs866012140	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.463C>T (p.Arg155Cys)	rs539743701	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.943G>T (p.Asp315Tyr)	rs62642917	0.00001
NM_000277.3(PAH):c.982A>G (p.Thr328Ala)	rs199475616	0.00001
NM_000277.3(PAH):c.1031G>A (p.Gly344Asp)	rs62508582
NM_000277.3(PAH):c.1099del (p.Leu367fs)	rs62506951
NM_000277.3(PAH):c.1125A>C (p.Gln375His)
NM_000277.3(PAH):c.125AAG[2] (p.Glu44del)	rs199475628
NM_000277.3(PAH):c.1355dup (p.Ter453ValextTer?)	rs199475641
NM_000277.3(PAH):c.181A>G (p.Asn61Asp)	rs199475651
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.223G>C (p.Asp75His)	rs767453024
NM_000277.3(PAH):c.226G>T (p.Glu76Ter)	rs762949770
NM_000277.3(PAH):c.265C>T (p.Pro89Ser)	rs62507270
NM_000277.3(PAH):c.364C>T (p.Pro122Ser)	rs1466564208
NM_000277.3(PAH):c.510-2A>G	rs1555204750
NM_000277.3(PAH):c.516G>C (p.Gln172His)	rs192592111
NM_000277.3(PAH):c.581T>G (p.Leu194Arg)
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.733G>A (p.Val245Met)	rs62508694

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