ClinVar Miner

List of variants reported as pathogenic 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: 67
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HGVS dbSNP
NM_000049.4(ASPA):c.634+1G>T rs753871454
NM_000071.2(CBS):c.1006C>T (p.Arg336Cys) rs398123151
NM_000071.2(CBS):c.19dup (p.Gln7fs) rs748695461
NM_000071.2(CBS):c.572C>T (p.Thr191Met) rs121964973
NM_000071.2(CBS):c.828+1G>A rs763290176
NM_000071.2(CBS):c.954+1G>A rs1057517373
NM_000071.2(CBS):c.969G>A (p.Trp323Ter) rs863223432
NM_000170.2(GLDC):c.1009C>T (p.Arg337Ter) rs386833517
NM_000170.2(GLDC):c.1270C>T (p.Arg424Ter) rs386833521
NM_000170.2(GLDC):c.1580+2T>G rs1554646710
NM_000170.2(GLDC):c.1888C>T (p.Arg630Ter) rs751025203
NM_000170.2(GLDC):c.2203-2A>G rs386833545
NM_000170.2(GLDC):c.2316-1G>A rs386833554
NM_000170.2(GLDC):c.24G>A (p.Trp8Ter) rs1163356968
NM_000170.2(GLDC):c.2614A>T (p.Lys872Ter) rs1430968530
NM_000170.2(GLDC):c.2919+1G>A rs386833575
NM_000170.2(GLDC):c.334+1G>T rs978795483
NM_000277.3(PAH):c.1024del (p.Ala342fs) rs63581460
NM_000277.3(PAH):c.1042C>G (p.Leu348Val) rs62516092
NM_000277.3(PAH):c.1055del (p.Gly352fs) rs62516094
NM_000277.3(PAH):c.1065+1G>A rs62516147
NM_000277.3(PAH):c.1068C>A (p.Tyr356Ter) rs62516095
NM_000277.3(PAH):c.1162G>A (p.Val388Met) rs62516101
NM_000277.3(PAH):c.1197A>T (p.Val399=) rs199475584
NM_000277.3(PAH):c.1198del (p.Arg400fs) rs199475590
NM_000277.3(PAH):c.1238G>C (p.Arg413Pro) rs79931499
NM_000277.3(PAH):c.1252A>C (p.Thr418Pro) rs62644501
NM_000277.3(PAH):c.165del (p.Phe55fs) rs199475566
NM_000277.3(PAH):c.168+5G>C rs62507288
NM_000277.3(PAH):c.169-2A>G rs1226613045
NM_000277.3(PAH):c.208_210del (p.Ser70del) rs62642094
NM_000277.3(PAH):c.266dup (p.Ala90fs) rs62506950
NM_000277.3(PAH):c.331C>T (p.Arg111Ter) rs76296470
NM_000277.3(PAH):c.398_401del (p.Asn133fs) rs199475605
NM_000277.3(PAH):c.441+5G>T rs62507321
NM_000277.3(PAH):c.472C>T (p.Arg158Trp) rs75166491
NM_000277.3(PAH):c.498C>G (p.Tyr166Ter) rs199475645
NM_000277.3(PAH):c.526C>T (p.Arg176Ter) rs199475575
NM_000277.3(PAH):c.527G>T (p.Arg176Leu) rs74486803
NM_000277.3(PAH):c.529G>C (p.Val177Leu) rs199475602
NM_000277.3(PAH):c.533A>G (p.Glu178Gly) rs77958223
NM_000277.3(PAH):c.569T>C (p.Val190Ala) rs62514919
NM_000277.3(PAH):c.60+5G>T rs62514895
NM_000277.3(PAH):c.611A>G (p.Tyr204Cys) rs62514927
NM_000277.3(PAH):c.618C>A (p.Tyr206Ter) rs62517201
NM_000277.3(PAH):c.632del (p.Pro211fs) rs62514929
NM_000277.3(PAH):c.673C>A (p.Pro225Thr) rs199475589
NM_000277.3(PAH):c.691T>C (p.Ser231Pro) rs5030845
NM_000277.3(PAH):c.694C>T (p.Gln232Ter) rs62507348
NM_000277.3(PAH):c.721C>T (p.Arg241Cys) rs76687508
NM_000277.3(PAH):c.727C>T (p.Arg243Ter) rs5030846
NM_000277.3(PAH):c.728G>A (p.Arg243Gln) rs62508588
NM_000277.3(PAH):c.745C>T (p.Leu249Phe) rs74503222
NM_000277.3(PAH):c.754C>T (p.Arg252Trp) rs5030847
NM_000277.3(PAH):c.781C>T (p.Arg261Ter) rs5030850
NM_000277.3(PAH):c.829T>G (p.Tyr277Asp) rs78655458
NM_000277.3(PAH):c.833C>T (p.Thr278Ile) rs62507262
NM_000277.3(PAH):c.842+3G>C rs62507324
NM_000277.3(PAH):c.847A>T (p.Ile283Phe) rs62517168
NM_000277.3(PAH):c.890G>A (p.Arg297His) rs62642939
NM_000277.3(PAH):c.896T>G (p.Phe299Cys) rs62642933
NM_000277.3(PAH):c.916A>G (p.Ile306Val) rs62642934
NM_000277.3(PAH):c.975C>G (p.Tyr325Ter) rs62508573
NM_000277.3(PAH):c.977G>A (p.Trp326Ter) rs62514959
NM_000481.3(AMT):c.1033+2T>C rs1553638247
NM_000481.3(AMT):c.471+2T>C rs386833684
NM_000481.3(AMT):c.878-1G>A rs181134220

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