ClinVar Miner

List of variants reported as uncertain significance for amino acid metabolism disease by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (438):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 42
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000156.6(GAMT):c.227C>T (p.Ser76Leu) rs150338273 0.00036
NM_000156.6(GAMT):c.570+161T>A rs368296913 0.00035
NM_000071.3(CBS):c.1479G>A (p.Thr493=) rs143225442 0.00029
NM_003042.4(SLC6A1):c.1250G>A (p.Arg417His) rs191293931 0.00026
NM_001127222.2(CACNA1A):c.3227C>T (p.Ala1076Val) rs199512932 0.00024
NM_000026.4(ADSL):c.357+6C>T rs181628906 0.00015
NM_000156.6(GAMT):c.662G>A (p.Arg221His) rs766553422 0.00009
NM_004975.4(KCNB1):c.1266G>C (p.Glu422Asp) rs755843579 0.00009
NM_000026.4(ADSL):c.734G>A (p.Arg245Gln) rs374047157 0.00004
NM_000026.4(ADSL):c.11G>T (p.Gly4Val) rs766546584 0.00003
NM_000156.6(GAMT):c.167C>T (p.Ala56Val) rs575350720 0.00003
NM_177550.5(SLC13A5):c.998G>A (p.Arg333Gln) rs1379095103 0.00003
NM_016373.4(WWOX):c.517-108243C>T rs551189075 0.00002
NM_000156.6(GAMT):c.20C>A (p.Thr7Asn) rs761687649 0.00001
NM_001080.3(ALDH5A1):c.692A>G (p.Glu231Gly) rs757605946 0.00001
NM_001271.4(CHD2):c.594G>C (p.Gln198His) rs374064833 0.00001
NM_001330260.2(SCN8A):c.2139A>C (p.Glu713Asp) rs1218269439 0.00001
NM_001330260.2(SCN8A):c.71A>G (p.Asn24Ser) rs769269501 0.00001
NM_001482.3(GATM):c.1231G>A (p.Asp411Asn) rs768171759 0.00001
NM_206933.4(USH2A):c.4733G>A (p.Arg1578His) rs552928943 0.00001
NM_000026.4(ADSL):c.1393G>C (p.Val465Leu) rs1569104977
NM_000071.3(CBS):c.1082C>T (p.Ala361Val) rs370851632
NM_000170.3(GLDC):c.2569+8T>G rs894742250
NM_000836.4(GRIN2D):c.2695_2697delinsACC (p.Ala899Thr)
NM_000836.4(GRIN2D):c.3847C>T (p.Pro1283Ser)
NM_001127222.2(CACNA1A):c.2088G>A (p.Leu696=) rs908321451
NM_001127222.2(CACNA1A):c.3085A>G (p.Arg1029Gly)
NM_001127222.2(CACNA1A):c.6271G>A (p.Ala2091Thr)
NM_001127222.2(CACNA1A):c.7266_7271del (p.Ser2423_Gly2424del) rs775428832
NM_001271.4(CHD2):c.1613T>G (p.Ile538Arg) rs1567139944
NM_001271.4(CHD2):c.1805A>G (p.Asp602Gly) rs1567140845
NM_001330260.2(SCN8A):c.4282-10C>G rs369145855
NM_001330260.2(SCN8A):c.5740G>A (p.Gly1914Ser)
NM_001958.5(EEF1A2):c.1286T>G (p.Met429Arg)
NM_001958.5(EEF1A2):c.532A>T (p.Ile178Phe) rs765056369
NM_003982.4(SLC7A7):c.460C>G (p.Pro154Ala)
NM_004408.4(DNM1):c.1872C>T (p.Gly624=) rs1367619284
NM_004975.4(KCNB1):c.2279C>A (p.Thr760Lys)
NM_005629.4(SLC6A8):c.1478T>C (p.Val493Ala)
NM_021072.4(HCN1):c.192_206dup (p.Gly70_Gly74dup) rs1485709375
NM_021072.4(HCN1):c.2019G>A (p.Leu673=) rs767602409
NM_021072.4(HCN1):c.203GCG[6] (p.Gly74del) rs747975797

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.