ClinVar Miner

List of variants studied for amino acid or protein metabolism disease with epilepsy by Department of Prenatal Diagnosis, Women’s Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_000277.3(PAH):c.110T>C (p.Leu37Pro) rs869312996
NM_000277.3(PAH):c.1172G>C (p.Ser391Thr) rs869312997
NM_000277.3(PAH):c.320A>G (p.His107Arg) rs542645236
NM_000277.3(PAH):c.800A>T (p.Gln267Leu) rs778154939

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