List of variants in gene PAH reported as uncertain significance for not provided

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: 43

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HGVS	dbSNP	gnomAD frequency
NM_000277.3(PAH):c.158G>A (p.Arg53His)	rs118092776	0.00091
NM_000277.3(PAH):c.30C>G (p.Gly10=)	rs1801145	0.00069
NM_000277.3(PAH):c.289A>C (p.Ile97Leu)	rs142516271	0.00057
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)	rs62642937	0.00036
NM_000277.3(PAH):c.299A>G (p.His100Arg)	rs148393887	0.00035
NM_000277.3(PAH):c.688G>A (p.Val230Ile)	rs62516152	0.00029
NM_000277.3(PAH):c.506G>A (p.Arg169His)	rs199475679	0.00020
NM_000277.3(PAH):c.60+28del	rs770397705	0.00006
NM_000277.3(PAH):c.1002C>T (p.Cys334=)	rs140243918	0.00004
NM_000277.3(PAH):c.1136T>C (p.Val379Ala)	rs746203167	0.00002
NM_000277.3(PAH):c.1218A>G (p.Ile406Met)	rs773526027	0.00002
NM_000277.3(PAH):c.1097C>T (p.Pro366Leu)	rs62516098	0.00001
NM_000277.3(PAH):c.1101G>A (p.Leu367=)	rs62508648	0.00001
NM_000277.3(PAH):c.169G>A (p.Glu57Lys)	rs140945592	0.00001
NM_000277.3(PAH):c.310_318del (p.Ala104_Val106del)	rs398123291	0.00001
NM_000277.3(PAH):c.356C>T (p.Pro119Leu)	rs374999809	0.00001
NM_000277.3(PAH):c.520A>G (p.Ile174Val)	rs199475632	0.00001
NM_000277.3(PAH):c.535T>A (p.Tyr179Asn)	rs199475671	0.00001
NM_000277.3(PAH):c.590T>G (p.Leu197Trp)	rs886042078	0.00001
NM_000277.3(PAH):c.716G>T (p.Gly239Val)	rs62507283	0.00001
NM_000277.3(PAH):c.811C>T (p.His271Tyr)	rs62517164	0.00001
GRCh37/hg19 12q23.2(chr12:102929882-103248872)x3
NM_000277.3(PAH):c.1003A>G (p.Lys335Glu)	rs886042068
NM_000277.3(PAH):c.1065+3A>G	rs62508689
NM_000277.3(PAH):c.1156T>C (p.Tyr386His)	rs199475691
NM_000277.3(PAH):c.1198A>C (p.Arg400=)	rs199475593
NM_000277.3(PAH):c.1210G>C (p.Ala404Pro)	rs886043085
NM_000277.3(PAH):c.1273G>A (p.Asp425Asn)
NM_000277.3(PAH):c.1286A>C (p.Gln429Pro)	rs794727047
NM_000277.3(PAH):c.146C>A (p.Ala49Asp)	rs1878253465
NM_000277.3(PAH):c.169-3T>G	rs1877439666
NM_000277.3(PAH):c.374T>C (p.Ile125Thr)
NM_000277.3(PAH):c.419C>A (p.Ala140Glu)
NM_000277.3(PAH):c.441+6T>A	rs199475698
NM_000277.3(PAH):c.464G>C (p.Arg155Pro)	rs199475663
NM_000277.3(PAH):c.500A>T (p.Asn167Ile)	rs77554925
NM_000277.3(PAH):c.509+41C>T
NM_000277.3(PAH):c.547G>C (p.Glu183Gln)	rs199475664
NM_000277.3(PAH):c.574A>G (p.Lys192Glu)
NM_000277.3(PAH):c.607T>A (p.Cys203Ser)	rs1555204715
NM_000277.3(PAH):c.718T>G (p.Phe240Val)	rs62507337
NM_000277.3(PAH):c.841C>T (p.Pro281Ser)	rs199475654
NM_000277.3(PAH):c.983C>T (p.Thr328Ile)	rs886042096

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