ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Inserm U 954, Faculté de Médecine de Nancy and "pathogenic" from any submitter

Minimum review status of the submission from Inserm U 954, Faculté de Médecine de Nancy: Collection method of the submission from Inserm U 954, Faculté de Médecine de Nancy:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 21
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HGVS dbSNP gnomAD frequency
NM_000277.3(PAH):c.505C>T (p.Arg169Cys) rs281865440 0.00001
NM_000277.3(PAH):c.970-1G>A rs202183605 0.00001
NM_000277.3(PAH):c.1066-2A>T rs281865447
NM_000277.3(PAH):c.1240T>C (p.Tyr414His) rs281865437
NM_000277.3(PAH):c.169G>T (p.Glu57Ter) rs140945592
NM_000277.3(PAH):c.183C>A (p.Asn61Lys) rs199475634
NM_000277.3(PAH):c.196G>T (p.Glu66Ter) rs281865454
NM_000277.3(PAH):c.350del (p.Thr117fs) rs281865428
NM_000277.3(PAH):c.441+6T>A rs199475698
NM_000277.3(PAH):c.442-2A>C rs281865448
NM_000277.3(PAH):c.504C>A (p.Tyr168Ter) rs281865455
NM_000277.3(PAH):c.591G>C (p.Leu197Phe) rs281865442
NM_000277.3(PAH):c.632C>T (p.Pro211Leu) rs281865443
NM_000277.3(PAH):c.682G>A (p.Glu228Lys) rs281865444
NM_000277.3(PAH):c.836C>T (p.Pro279Leu) rs796064503
NM_000277.3(PAH):c.837del (p.Glu280fs) rs281865429
NM_000277.3(PAH):c.869A>T (p.His290Leu) rs62642919
NM_000277.3(PAH):c.887A>G (p.Asp296Gly) rs281865446
NM_000277.3(PAH):c.912+2T>C rs281865449
NM_000277.3(PAH):c.916del (p.Ile306fs) rs281865456
NM_000277.3(PAH):c.931_932del (p.Leu311fs) rs281865430

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