Variants with conflicting interpretations "uncertain significance" from ClinGen PAH Variant Curation Expert Panel and "pathogenic" from any submitter

Minimum review status of the submission from ClinGen PAH Variant Curation Expert Panel:		Collection method of the submission from ClinGen PAH Variant Curation Expert Panel:
Minimum review status of the other submission:		Collection method of the other submission:
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 19

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HGVS	dbSNP	gnomAD frequency
NM_000277.3(PAH):c.1066T>C (p.Tyr356His)	rs62507320	0.00003
NM_000277.3(PAH):c.176A>T (p.Asp59Val)	rs199475672	0.00001
NM_000277.3(PAH):c.307G>T (p.Gly103Cys)	rs752792040	0.00001
NM_000277.3(PAH):c.310_318del (p.Ala104_Val106del)	rs398123291	0.00001
NM_000277.3(PAH):c.441+4A>G	rs62508586	0.00001
NM_000277.3(PAH):c.789C>G (p.Phe263Leu)	rs62642944	0.00001
NM_000277.3(PAH):c.969+6T>A	rs62517196	0.00001
NM_000277.3(PAH):c.970A>G (p.Ile324Val)	rs1221031352	0.00001
NM_000277.3(PAH):c.1240T>C (p.Tyr414His)	rs281865437
NM_000277.3(PAH):c.473G>C (p.Arg158Pro)	rs5030843
NM_000277.3(PAH):c.493G>C (p.Ala165Pro)	rs199475626
NM_000277.3(PAH):c.650G>A (p.Cys217Tyr)	rs62508617
NM_000277.3(PAH):c.682G>A (p.Glu228Lys)	rs281865444
NM_000277.3(PAH):c.718T>G (p.Phe240Val)	rs62507337
NM_000277.3(PAH):c.737C>A (p.Ala246Asp)	rs199475610
NM_000277.3(PAH):c.782G>T (p.Arg261Leu)	rs5030849
NM_000277.3(PAH):c.800A>T (p.Gln267Leu)	rs778154939
NM_000277.3(PAH):c.869A>T (p.His290Leu)	rs62642919
NM_000277.3(PAH):c.887A>G (p.Asp296Gly)	rs281865446

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