ClinVar Miner

List of variants in gene PAH reported as uncertain significance by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_000277.3(PAH):c.30C>G (p.Gly10=) rs1801145 0.00068
NM_000277.3(PAH):c.289A>C (p.Ile97Leu) rs142516271 0.00053
NM_000277.3(PAH):c.299A>G (p.His100Arg) rs148393887 0.00034
NM_000277.3(PAH):c.280A>G (p.Ile94Val) rs528078207 0.00013
NM_000277.3(PAH):c.71A>G (p.Tyr24Cys) rs539994406 0.00010
NM_000277.3(PAH):c.65C>A (p.Thr22Lys) rs199565868 0.00007
NM_000277.3(PAH):c.350C>T (p.Thr117Ile) rs281865439 0.00005
NM_000277.3(PAH):c.1282C>G (p.Gln428Glu) rs567261857 0.00004
NM_000277.3(PAH):c.74T>C (p.Ile25Thr) rs1355039694 0.00003
NM_000277.3(PAH):c.1093C>T (p.Leu365Phe) rs951540129 0.00002
NM_000277.3(PAH):c.752C>T (p.Ser251Phe) rs369646949 0.00002
NM_000277.3(PAH):c.913-5T>C rs62507264 0.00002
NM_000277.3(PAH):c.1210G>T (p.Ala404Ser) rs886043085 0.00001
NM_000277.3(PAH):c.214T>G (p.Leu72Val) rs760782775 0.00001
NM_000277.3(PAH):c.22A>G (p.Asn8Asp) rs763623193 0.00001
NM_000277.3(PAH):c.257G>A (p.Arg86His) rs746603180 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
NM_000277.3(PAH):c.1127A>G (p.Asn376Ser) rs1830162545
NM_000277.3(PAH):c.1150C>T (p.Pro384Ser) rs1555203677
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.1276A>C (p.Asn426His)
NM_000277.3(PAH):c.1342C>T (p.Leu448Phe) rs2499609842
NM_000277.3(PAH):c.146C>T (p.Ala49Val) rs1878253465
NM_000277.3(PAH):c.148A>G (p.Lys50Glu) rs776829633
NM_000277.3(PAH):c.152T>C (p.Val51Ala)
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) rs1877434841
NM_000277.3(PAH):c.229T>C (p.Tyr77His) rs1877431851
NM_000277.3(PAH):c.234A>T (p.Glu78Asp) rs2136701879
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.33G>A (p.Leu11=)
NM_000277.3(PAH):c.368G>T (p.Arg123Ile) rs199475681
NM_000277.3(PAH):c.371C>A (p.Thr124Asn) rs199475571
NM_000277.3(PAH):c.384G>A (p.Leu128=) rs879012174
NM_000277.3(PAH):c.386A>C (p.Asp129Ala)
NM_000277.3(PAH):c.392T>C (p.Phe131Ser) rs1876624286
NM_000277.3(PAH):c.419C>T (p.Ala140Val) rs372657268
NM_000277.3(PAH):c.44T>G (p.Leu15Arg) rs1319374413
NM_000277.3(PAH):c.458T>C (p.Val153Ala) rs2499637013
NM_000277.3(PAH):c.552_554del (p.Lys185del) rs2499626322
NM_000277.3(PAH):c.553A>G (p.Lys185Glu) rs2499626324
NM_000277.3(PAH):c.574A>G (p.Lys192Glu) rs932415157
NM_000277.3(PAH):c.626T>C (p.Ile209Thr) rs1409955402
NM_000277.3(PAH):c.637C>T (p.Leu213Phe) rs1131691945
NM_000277.3(PAH):c.656T>A (p.Phe219Tyr) rs1164279708
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.791A>G (p.His264Arg) rs199475580
NM_000277.3(PAH):c.796A>G (p.Thr266Ala) rs62508752
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) rs1013968856
NM_000277.3(PAH):c.956A>G (p.Glu319Gly) rs1592949408
NM_000277.3(PAH):c.983C>T (p.Thr328Ile) rs886042096
NM_000277.3(PAH):c.98G>T (p.Gly33Val) rs2499542573

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