ClinVar Miner

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

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 52
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HGVS dbSNP
NC_000003.12:g.(?_49419700)_(49419798_?)dup
NC_000009.12:g.(?_6533007)_(6550924_?)del
NC_000009.12:g.(?_6558539)_(6558704_?)del
NC_000009.12:g.(?_6565334)_(6610376_?)del
NC_000010.11:g.(?_123034356)_(123041379_?)del
NC_000014.8:g.(?_67610059)_(67610186_?)dup
NC_000014.9:g.(?_66915983)_(66916089_?)dup
NC_000021.9:g.(?_43060421)_(43062415_?)dup
NM_000049.4(ASPA):c.236+2T>C
NM_000071.2(CBS):c.1359-1G>C rs865990681
NM_000071.2(CBS):c.146C>T (p.Pro49Leu) rs148865119
NM_000071.2(CBS):c.430G>A (p.Glu144Lys) rs121964966
NM_000071.2(CBS):c.532-2A>G rs1568932835
NM_000071.2(CBS):c.667-14_667-7del rs764160782
NM_000071.2(CBS):c.992C>A (p.Ala331Glu) rs777919630
NM_000170.2(GLDC):c.1317G>T (p.Lys439Asn)
NM_000170.2(GLDC):c.1850+1del rs1399754800
NM_000170.2(GLDC):c.1889G>C (p.Arg630Pro) rs763517274
NM_000170.2(GLDC):c.1926+5G>A rs1554644678
NM_000170.2(GLDC):c.2182G>A (p.Gly728Arg) rs386833542
NM_000170.2(GLDC):c.2216G>A (p.Arg739His) rs121964980
NM_000170.2(GLDC):c.2323C>T (p.His775Tyr) rs1554643619
NM_000170.2(GLDC):c.2455A>G (p.Lys819Glu)
NM_000170.3(GLDC):c.471-1G>C
NM_000170.3(GLDC):c.713+1G>A
NM_000277.3(PAH):c.1066-10_1070del
NM_000277.3(PAH):c.1074A>T (p.Leu358Phe) rs376480977
NM_000277.3(PAH):c.1123C>G (p.Gln375Glu)
NM_000277.3(PAH):c.1200-8G>A rs62507261
NM_000277.3(PAH):c.121C>T (p.Leu41Phe) rs62642928
NM_000277.3(PAH):c.1282C>T (p.Gln428Ter) rs567261857
NM_000277.3(PAH):c.1339G>A (p.Ala447Thr)
NM_000277.3(PAH):c.223G>A (p.Asp75Asn)
NM_000277.3(PAH):c.385G>T (p.Asp129Tyr) rs199475606
NM_000277.3(PAH):c.441+6T>A rs199475698
NM_000277.3(PAH):c.516G>C (p.Gln172His)
NM_000277.3(PAH):c.602A>G (p.His201Arg) rs62517180
NM_000277.3(PAH):c.613G>A (p.Glu205Lys) rs63083560
NM_000277.3(PAH):c.620A>G (p.Asn207Ser) rs62508721
NM_000277.3(PAH):c.632C>T (p.Pro211Leu) rs281865443
NM_000277.3(PAH):c.794G>A (p.Cys265Tyr) rs62507335
NM_000277.3(PAH):c.835C>G (p.Pro279Ala) rs1555204441
NM_000277.3(PAH):c.974A>G (p.Tyr325Cys) rs62508578
NM_000481.3(AMT):c.339+1G>A
NM_000481.3(AMT):c.696+2T>A rs541594122
NM_000481.4(AMT):c.217C>T (p.Arg73Cys) rs386833679
NM_001032386.2(SUOX):c.650G>A (p.Arg217Gln) rs121908007
NM_001609.3(ACADSB):c.443C>T (p.Thr148Ile) rs58639322
NM_003748.4(ALDH4A1):c.298-1G>C rs1557620472
NM_003748.4(ALDH4A1):c.866+1G>A rs78532707
NM_020806.5(GPHN):c.2079+2T>C
NM_152783.5(D2HGDH):c.853+2T>C rs1559364994

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