List of variants in gene PAH reported as uncertain significance by Natera, Inc.

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: 28

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HGVS	dbSNP	gnomAD frequency
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.299A>G (p.His100Arg)	rs148393887	0.00035
NM_000277.3(PAH):c.509+21G>T	rs191700258	0.00010
NM_000277.3(PAH):c.60+9C>T	rs369454152	0.00009
NM_000277.3(PAH):c.1140G>A (p.Thr380=)	rs373763334	0.00008
NM_000277.3(PAH):c.222A>G (p.Lys74=)	rs374797155	0.00006
NM_000277.3(PAH):c.438C>T (p.His146=)	rs191142120	0.00006
NM_000277.3(PAH):c.1010G>A (p.Gly337Glu)	rs62517206	0.00004
NM_000277.3(PAH):c.420G>A (p.Ala140=)	rs200366386	0.00004
NM_000277.3(PAH):c.71A>G (p.Tyr24Cys)	rs539994406	0.00003
NM_000277.3(PAH):c.198A>G (p.Glu66=)	rs117308669	0.00001
NM_000277.3(PAH):c.442G>A (p.Gly148Ser)	rs80297647	0.00001
NM_000277.3(PAH):c.511G>A (p.Gly171Arg)	rs199475613	0.00001
NM_000277.3(PAH):c.811C>T (p.His271Tyr)	rs62517164	0.00001
NM_000277.3(PAH):c.970-10T>C	rs1485782102	0.00001
NM_000277.3(PAH):c.105A>G (p.Ile35Met)	rs768048739
NM_000277.3(PAH):c.1065+9T>G	rs1874730997
NM_000277.3(PAH):c.1066-7C>T	rs1242756437
NM_000277.3(PAH):c.1089G>C (p.Lys363Asn)	rs63329263
NM_000277.3(PAH):c.1120A>G (p.Ile374Val)	rs769076484
NM_000277.3(PAH):c.1262T>G (p.Ile421Ser)	rs199475696
NM_000277.3(PAH):c.1334G>T (p.Cys445Phe)	rs1874484048
NM_000277.3(PAH):c.353-7_353-5dup	rs1452763334
NM_000277.3(PAH):c.456T>C (p.Pro152=)	rs377244118
NM_000277.3(PAH):c.510-5T>A	rs1875378128
NM_000277.3(PAH):c.538A>G (p.Met180Val)	rs1875373366
NM_000277.3(PAH):c.54T>C (p.Phe18=)	rs1878411076

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