ClinVar Miner

List of variants reported as uncertain significance for classic organic aciduria by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP
NM_000255.4(MMUT):c.1332+3A>C rs367641890
NM_000255.4(MMUT):c.1417G>T (p.Ala473Ser) rs188766510
NM_000411.8(HLCS):c.1109C>T (p.Thr370Ile) rs575286749
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln) rs150555106
NM_000532.5(PCCB):c.911C>T (p.Thr304Ile)
NM_001609.3(ACADSB):c.1187A>C (p.Lys396Thr) rs148640214
NM_001698.2(AUH):c.730G>A (p.Asp244Asn) rs202182817
NM_001698.2(AUH):c.791G>A (p.Gly264Glu) rs376821113
NM_005050.4(ABCD4):c.1411C>T (p.Arg471Trp) rs45568335
NM_005334.3(HCFC1):c.4153A>G (p.Arg1385Gly)
NM_005334.3(HCFC1):c.4576G>A (p.Ala1526Thr) rs782652831
NM_015506.3(MMACHC):c.848G>C (p.Ter283Ser) rs201025783
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met) rs138480247
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser)
NM_022132.5(MCCC2):c.1322T>C (p.Ile441Thr) rs139852818
NM_022132.5(MCCC2):c.1433C>G (p.Ala478Gly) rs35068278

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