List of variants reported as uncertain significance for Phenylketonuria by Invitae

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 63

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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.65C>A (p.Thr22Lys)	rs199565868	0.00013
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.1093C>T (p.Leu365Phe)	rs951540129	0.00004
NM_000277.3(PAH):c.1066T>C (p.Tyr356His)	rs62507320	0.00003
NM_000277.3(PAH):c.71A>G (p.Tyr24Cys)	rs539994406	0.00003
NM_000277.3(PAH):c.74T>C (p.Ile25Thr)	rs1355039694	0.00002
NM_000277.3(PAH):c.1101G>A (p.Leu367=)	rs62508648	0.00001
NM_000277.3(PAH):c.499A>T (p.Asn167Tyr)	rs1210056131	0.00001
NM_000277.3(PAH):c.63A>C (p.Glu21Asp)	rs753466976	0.00001
NC_000012.11:g.(?_103232953)_(103310908_?)dup
NC_000012.11:g.(?_103288493)_(103352733_?)dup
NM_000277.3(PAH):c.1127A>G (p.Asn376Ser)
NM_000277.3(PAH):c.1150C>T (p.Pro384Ser)	rs1555203677
NM_000277.3(PAH):c.1210G>T (p.Ala404Ser)
NM_000277.3(PAH):c.125AAG[2] (p.Glu44del)	rs199475628
NM_000277.3(PAH):c.1262T>G (p.Ile421Ser)	rs199475696
NM_000277.3(PAH):c.1264G>A (p.Glu422Lys)	rs199475621
NM_000277.3(PAH):c.1282C>G (p.Gln428Glu)
NM_000277.3(PAH):c.133G>T (p.Val45Phe)	rs1878255139
NM_000277.3(PAH):c.1342C>T (p.Leu448Phe)
NM_000277.3(PAH):c.146C>T (p.Ala49Val)	rs1878253465
NM_000277.3(PAH):c.148A>G (p.Lys50Glu)
NM_000277.3(PAH):c.169-7C>G	rs2136702235
NM_000277.3(PAH):c.200C>G (p.Ser67Cys)	rs2136702072
NM_000277.3(PAH):c.206C>T (p.Pro69Leu)
NM_000277.3(PAH):c.214T>G (p.Leu72Val)
NM_000277.3(PAH):c.229T>C (p.Tyr77His)
NM_000277.3(PAH):c.22A>G (p.Asn8Asp)
NM_000277.3(PAH):c.234A>T (p.Glu78Asp)	rs2136701879
NM_000277.3(PAH):c.250G>A (p.Asp84Asn)
NM_000277.3(PAH):c.257G>A (p.Arg86His)
NM_000277.3(PAH):c.284_285delinsCA (p.Ile95Thr)	rs281865432
NM_000277.3(PAH):c.295A>G (p.Arg99Gly)	rs2136701651
NM_000277.3(PAH):c.368G>T (p.Arg123Ile)	rs199475681
NM_000277.3(PAH):c.371C>A (p.Thr124Asn)
NM_000277.3(PAH):c.384G>A (p.Leu128=)
NM_000277.3(PAH):c.392T>C (p.Phe131Ser)	rs1876624286
NM_000277.3(PAH):c.419C>T (p.Ala140Val)
NM_000277.3(PAH):c.44T>G (p.Leu15Arg)
NM_000277.3(PAH):c.458T>C (p.Val153Ala)
NM_000277.3(PAH):c.552_554del (p.Lys185del)
NM_000277.3(PAH):c.553A>G (p.Lys185Glu)
NM_000277.3(PAH):c.574A>G (p.Lys192Glu)
NM_000277.3(PAH):c.626T>C (p.Ile209Thr)
NM_000277.3(PAH):c.656T>A (p.Phe219Tyr)
NM_000277.3(PAH):c.661G>A (p.Glu221Lys)	rs2136649314
NM_000277.3(PAH):c.703C>A (p.Gln235Lys)	rs1237792711
NM_000277.3(PAH):c.752C>T (p.Ser251Phe)
NM_000277.3(PAH):c.791A>G (p.His264Arg)	rs199475580
NM_000277.3(PAH):c.796A>G (p.Thr266Ala)	rs62508752
NM_000277.3(PAH):c.843-8T>C	rs2136645006
NM_000277.3(PAH):c.880T>A (p.Phe294Ile)	rs1565846198
NM_000277.3(PAH):c.913-5T>C
NM_000277.3(PAH):c.945T>A (p.Asp315Glu)	rs1180470263
NM_000277.3(PAH):c.947A>T (p.Glu316Val)	rs1874873096
NM_000277.3(PAH):c.950A>G (p.Tyr317Cys)	rs2136639547
NM_000277.3(PAH):c.952A>G (p.Ile318Val)
NM_000277.3(PAH):c.983C>T (p.Thr328Ile)	rs886042096
NM_000277.3(PAH):c.98G>T (p.Gly33Val)

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