ClinVar Miner

List of variants reported as uncertain significance for classic organic aciduria by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001609.4(ACADSB):c.443C>T (p.Thr148Ile) rs58639322 0.00060
NM_005050.4(ABCD4):c.1465G>A (p.Asp489Asn) rs139901585 0.00022
NM_014362.4(HIBCH):c.226G>A (p.Glu76Lys) rs778434126 0.00002
NM_005334.3(HCFC1):c.1030C>T (p.Arg344Cys) rs2065417308
NM_005334.3(HCFC1):c.4983_4988del (p.Val1662_Thr1663del) rs1275942023
NM_015506.3(MMACHC):c.545G>A (p.Cys182Tyr) rs372010149
NM_022132.5(MCCC2):c.176G>A (p.Arg59Gln)

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