ClinVar Miner

List of variants studied for amino acid or protein metabolism disease with epilepsy by Division of Human Genetics,Children's Hospital of Philadelphia

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_000049.4(ASPA):c.914C>A (p.Ala305Glu) rs28940574
NM_000170.2(GLDC):c.499G>T (p.Glu167Ter) rs191905539
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937
NM_000277.3(PAH):c.1184C>G (p.Ala395Gly) rs62508736
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747
NM_001609.3(ACADSB):c.303+1G>A rs147936696
NM_020806.4(GPHN):c.1831G>A (p.Glu611Lys) rs1060499577

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