List of variants in gene PAH reported by Genome-Nilou Lab

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 26

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HGVS	dbSNP	gnomAD frequency
NM_000277.3(PAH):c.1155C>G (p.Leu385=)	rs772897	0.84953
NM_000277.3(PAH):c.696G>A (p.Gln232=)	rs1126758	0.64991
NM_000277.3(PAH):c.353-22C>T	rs2037639	0.23047
NM_000277.3(PAH):c.735G>A (p.Val245=)	rs1042503	0.19782
NM_000277.3(PAH):c.*19G>T	rs372637021	0.00103
NM_000277.3(PAH):c.158G>A (p.Arg53His)	rs118092776	0.00091
NM_000277.3(PAH):c.1208C>T (p.Ala403Val)	rs5030857	0.00057
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)	rs62642937	0.00036
NM_000277.3(PAH):c.688G>A (p.Val230Ile)	rs62516152	0.00029
NM_000277.3(PAH):c.1161C>T (p.Tyr387=)	rs149595475	0.00023
NM_000277.3(PAH):c.165T>G (p.Phe55Leu)	rs199475598	0.00023
NM_000277.3(PAH):c.842C>T (p.Pro281Leu)	rs5030851	0.00010
NM_000277.3(PAH):c.727C>T (p.Arg243Ter)	rs5030846	0.00004
NM_000277.3(PAH):c.526C>T (p.Arg176Ter)	rs199475575	0.00003
NM_000277.3(PAH):c.631C>A (p.Pro211Thr)	rs62514931	0.00003
NM_000277.3(PAH):c.1065+39G>T	rs62510582	0.00002
NM_000277.3(PAH):c.1218A>G (p.Ile406Met)	rs773526027	0.00002
NM_000277.3(PAH):c.505C>T (p.Arg169Cys)	rs281865440	0.00001
NM_000277.3(PAH):c.781C>T (p.Arg261Ter)	rs5030850	0.00001
NM_000277.3(PAH):c.786C>T (p.Val262=)	rs776860902	0.00001
NM_000277.3(PAH):c.1089G>C (p.Lys363Asn)	rs63329263
NM_000277.3(PAH):c.1339G>A (p.Ala447Thr)	rs1192400891
NM_000277.3(PAH):c.305T>C (p.Ile102Thr)	rs62508591
NM_000277.3(PAH):c.529G>A (p.Val177Met)	rs199475602
NM_000277.3(PAH):c.620A>G (p.Asn207Ser)	rs62508721
NM_000277.3(PAH):c.931_932del (p.Leu311fs)	rs281865430

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