ClinVar Miner

List of variants reported as uncertain significance for inborn disorder of amino acid and other organic acid metabolism by MGZ Medical Genetics Center

Included ClinVar conditions (315):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_016335.6(PRODH):c.1292G>A (p.Arg431His) rs2904552 0.06735
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr) rs74653330 0.00630
NM_016335.6(PRODH):c.1322T>C (p.Leu441Pro) rs2904551 0.00282
NM_000016.6(ACADM):c.127G>A (p.Glu43Lys) rs147559466 0.00210
NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp) rs200483477 0.00072
NM_000016.6(ACADM):c.214G>A (p.Glu72Lys) rs374358376 0.00028
NM_000531.6(OTC):c.385C>T (p.Arg129Cys) rs140046498 0.00013
NM_000372.5(TYR):c.1063G>C (p.Ala355Pro) rs62645908 0.00005
NM_018706.7(DHTKD1):c.962C>T (p.Pro321Leu) rs755528865 0.00004
NM_014049.5(ACAD9):c.509C>T (p.Ala170Val) rs762521317 0.00001
NM_175914.5(HNF4A):c.341G>A (p.Arg114Gln) rs149611886 0.00001
NM_000162.5(GCK):c.1270C>T (p.His424Tyr)
NM_000162.5(GCK):c.149A>T (p.His50Leu)
NM_000275.3(OCA2):c.2404dup (p.Tyr802fs)
NM_000291.4(PGK1):c.909_910delinsTT (p.Ala304Ser) rs2149136202
NM_000352.6(ABCC8):c.2960C>T (p.Ser987Phe)
NM_000360.4(TH):c.44G>T (p.Arg15Leu)
NM_000458.4(HNF1B):c.1151T>G (p.Val384Gly)
NM_000545.8(HNF1A):c.1544_1545delinsGA (p.Thr515Arg)
NM_001370658.1(BTD):c.557T>G (p.Leu186Arg)
NM_001985.3(ETFB):c.605AGA[3] (p.Lys205del) rs767519060
NM_004453.4(ETFDH):c.1465A>G (p.Lys489Glu)
NM_004453.4(ETFDH):c.784T>G (p.Leu262Val)
NM_014049.5(ACAD9):c.898C>G (p.Leu300Val)
NM_015506.3(MMACHC):c.792_818del (p.Ser264_Pro272del) rs753855245
NM_175914.5(HNF4A):c.50-4682C>T

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