List of variants in gene combination LOC126861615, PAH reported as pathogenic for Phenylketonuria

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)

Total variants: 36

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HGVS	dbSNP	gnomAD frequency
NM_000277.3(PAH):c.898G>T (p.Ala300Ser)	rs5030853	0.00032
NM_000277.3(PAH):c.896T>G (p.Phe299Cys)	rs62642933	0.00007
NM_000277.3(PAH):c.844G>A (p.Asp282Asn)	rs199475582	0.00003
NM_000277.3(PAH):c.890G>A (p.Arg297His)	rs62642939	0.00002
NM_000277.3(PAH):c.912+1G>A	rs62514956	0.00002
NM_000277.3(PAH):c.847A>T (p.Ile283Phe)	rs62517168	0.00001
NM_000277.3(PAH):c.848T>A (p.Ile283Asn)	rs62508693	0.00001
NM_000277.3(PAH):c.859C>G (p.Leu287Val)	rs781096854	0.00001
NM_000277.3(PAH):c.865G>A (p.Gly289Arg)	rs199475693	0.00001
NM_000277.3(PAH):c.875C>T (p.Pro292Leu)	rs1200240274	0.00001
NM_000277.3(PAH):c.889C>T (p.Arg297Cys)	rs62642945	0.00001
NM_000277.1(PAH):c.913_1199del (p.Ile306Leufs)
NM_000277.3(PAH):c.510-735_912+434del
NM_000277.3(PAH):c.843-1G>A	rs1373264140
NM_000277.3(PAH):c.843-2A>T	rs62509019
NM_000277.3(PAH):c.843-5T>C	rs1875163630
NM_000277.3(PAH):c.845A>G (p.Asp282Gly)	rs199475660
NM_000277.3(PAH):c.856G>A (p.Glu286Lys)	rs62508739
NM_000277.3(PAH):c.865G>C (p.Gly289Arg)	rs199475693
NM_000277.3(PAH):c.866G>A (p.Gly289Glu)
NM_000277.3(PAH):c.868C>T (p.His290Tyr)	rs1486763160
NM_000277.3(PAH):c.869A>T (p.His290Leu)	rs62642919
NM_000277.3(PAH):c.870T>A (p.His290Gln)	rs751203209
NM_000277.3(PAH):c.873_880del (p.Pro292fs)	rs1875158272
NM_000277.3(PAH):c.884C>G (p.Ser295Ter)	rs62642910
NM_000277.3(PAH):c.887A>G (p.Asp296Gly)	rs281865446
NM_000277.3(PAH):c.899C>T (p.Ala300Val)	rs199475609
NM_000277.3(PAH):c.901C>T (p.Gln301Ter)	rs1057520732
NM_000277.3(PAH):c.901del (p.Gln301fs)	rs2499621854
NM_000277.3(PAH):c.902A>C (p.Gln301Pro)	rs1592952183
NM_000277.3(PAH):c.907del (p.Ser303fs)	rs62642920
NM_000277.3(PAH):c.910C>T (p.Gln304Ter)	rs1555204295
NM_000277.3(PAH):c.912+1G>C	rs62514956
NM_000277.3(PAH):c.912+1G>T	rs62514956
NM_000277.3(PAH):c.912+2T>C	rs281865449
NM_000277.3(PAH):c.912G>A (p.Gln304=)	rs199475583

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