ClinVar Miner

List of variants reported as likely pathogenic for amino acid metabolism disease by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (436):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_145199.3(LIPT1):c.369del (p.Lys123fs) rs552120721 0.00071
NM_000170.3(GLDC):c.445C>T (p.Arg149Trp) rs183024300 0.00002
NM_003042.4(SLC6A1):c.593A>G (p.His198Arg) rs1697439559 0.00001
NM_005518.4(HMGCS2):c.1499G>A (p.Arg500His) rs137852639 0.00001
NM_000018.4(ACADVL):c.722A>G (p.Tyr241Cys) rs575789958
NM_000282.4(PCCA):c.805C>T (p.His269Tyr) rs2062620327
NM_000481.4(AMT):c.1068GAA[2] (p.Lys358del) rs768940499
NM_000531.6(OTC):c.621C>A (p.Ser207Arg) rs72558415
NM_001081.4(CUBN):c.5318G>A (p.Gly1773Asp)
NM_001127222.2(CACNA1A):c.4927G>A (p.Asp1643Asn) rs1064795531
NM_001271.4(CHD2):c.1244G>T (p.Cys415Phe)
NM_001271.4(CHD2):c.2764GAG[2] (p.Glu924del) rs2053946125
NM_001330260.2(SCN8A):c.4426G>A (p.Gly1476Ser) rs1064793263
NM_001330260.2(SCN8A):c.971G>A (p.Cys324Tyr) rs2138739035
NM_001352514.2(HLCS):c.1163G>C (p.Gly388Ala) rs1057516035
NM_001985.3(ETFB):c.136del (p.Val46fs)
NM_004453.4(ETFDH):c.152G>A (p.Arg51Gln) rs534388496
NM_005518.4(HMGCS2):c.512C>T (p.Ala171Val) rs1653132966
NM_005518.4(HMGCS2):c.905C>T (p.Thr302Ile) rs1652875135
NM_006445.4(PRPF8):c.6978C>G (p.Tyr2326Ter) rs773363890
NM_014049.5(ACAD9):c.1169C>T (p.Ala390Val)
NM_014049.5(ACAD9):c.1376_1381delinsCCT (p.Lys459_Ser461delinsThrCys)
NM_024818.6(UBA5):c.280A>G (p.Arg94Gly)

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