ClinVar Miner

List of variants reported as likely benign for amino acid or protein metabolism disease with epilepsy by Counsyl

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_000071.2(CBS):c.1316G>A (p.Arg439Gln) rs756467921
NM_000170.2(GLDC):c.2053-5C>G rs140877566
NM_000277.3(PAH):c.1066-31G>A rs199475685
NM_000277.3(PAH):c.1199+70G>A rs281865457
NM_000277.3(PAH):c.169-42T>A rs281865459
NM_000277.3(PAH):c.352+11G>C rs371926082
NM_000277.3(PAH):c.442-18G>A rs149538764
NM_000277.3(PAH):c.820A>G (p.Lys274Glu) rs142934616
NM_000277.3(PAH):c.969+7C>T rs80324017
NM_000481.4(AMT):c.153G>A (p.Ala51=) rs768510463
NM_000481.4(AMT):c.231G>A (p.Ser77=) rs779002947
NM_000481.4(AMT):c.84C>T (p.Cys28=) rs763223038

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