List of variants in gene PAH reported as uncertain significance by Illumina Laboratory Services, Illumina

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: 26

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HGVS	dbSNP	gnomAD frequency
NM_000277.3(PAH):c.772C>T (p.Leu258=)	rs75065106	0.00272
NM_000277.3(PAH):c.*650A>G	rs180991851	0.00256
NM_000277.3(PAH):c.*699C>T	rs189466448	0.00078
NM_000277.3(PAH):c.*735T>C	rs185081299	0.00078
NM_000277.3(PAH):c.30C>G (p.Gly10=)	rs1801145	0.00069
NM_000277.3(PAH):c.609C>T (p.Cys203=)	rs1801147	0.00036
NM_000277.3(PAH):c.299A>G (p.His100Arg)	rs148393887	0.00035
NM_000277.3(PAH):c.-104C>T	rs767107144	0.00028
NM_000277.3(PAH):c.1161C>T (p.Tyr387=)	rs149595475	0.00023
NM_000277.3(PAH):c.*272C>T	rs928972999	0.00019
NM_000277.3(PAH):c.399T>C (p.Asn133=)	rs145692106	0.00019
NM_000277.3(PAH):c.*79G>A	rs569495604	0.00016
NM_000277.3(PAH):c.280A>G (p.Ile94Val)	rs528078207	0.00010
NM_000277.3(PAH):c.350C>T (p.Thr117Ile)	rs281865439	0.00005
NM_000277.3(PAH):c.71A>G (p.Tyr24Cys)	rs539994406	0.00003
NM_000277.3(PAH):c.*42A>G	rs1238562736	0.00001
NM_000277.3(PAH):c.1066-9G>A	rs750730715	0.00001
NM_000277.3(PAH):c.786C>T (p.Val262=)	rs776860902	0.00001
NM_000277.2(PAH):c.-232C>G	rs886048893
NM_000277.3(PAH):c.772_775del	rs551502562
NM_000277.3(PAH):c.-73C>G	rs886048891
NM_000277.3(PAH):c.1089G>C (p.Lys363Asn)	rs63329263
NM_000277.3(PAH):c.125AAG[2] (p.Glu44del)	rs199475628
NM_000277.3(PAH):c.23A>C (p.Asn8Thr)	rs1878414153
NM_000277.3(PAH):c.411C>T (p.Ser137=)	rs1801146
NM_000277.3(PAH):c.44T>A (p.Leu15His)	rs1319374413

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