ClinVar Miner

List of variants reported as pathogenic for phenylketonuria by Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857 0.00057
NM_000277.3(PAH):c.898G>T (p.Ala300Ser) rs5030853 0.00034
NM_000277.3(PAH):c.1066-11G>A rs5030855 0.00028
NM_000277.3(PAH):c.833C>A (p.Thr278Asn) rs62507262

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