ClinVar Miner

List of variants reported as pathogenic for classic organic aciduria by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (39):
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ClinVar version:
Total variants: 10
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NM_000019.4(ACAT1):c.997G>C (p.Ala333Pro) rs120074147
NM_000191.3(HMGCL):c.499T>A (p.Tyr167Asn) rs1553132209
NM_000255.4(MMUT):c.1874A>C (p.Asp625Ala)
NM_000255.4(MMUT):c.2T>C (p.Met1Thr) rs879253820
NM_000532.5(PCCB):c.337C>T (p.Arg113Ter) rs186031457
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter) rs121918242
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266
NM_052845.4(MMAB):c.571C>T (p.Arg191Trp) rs376128990
NM_172250.3(MMAA):c.1229T>A (p.Leu410Ter)

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