ClinVar Miner

List of variants studied 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: 28
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HGVS dbSNP
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.1207C>G (p.Arg403Gly) rs727504020
NM_000255.4(MMUT):c.191C>T (p.Pro64Leu) rs575038087
NM_000255.4(MMUT):c.2T>C (p.Met1Thr) rs879253820
NM_000255.4(MMUT):c.806C>T (p.Ala269Val) rs767593892
NM_000532.5(PCCB):c.373-1246G>A rs996480567
NM_000532.5(PCCB):c.889C>T (p.Arg297Cys) rs549397464
NM_001017989.3(OPA3):c.143-24384A>G rs1382779104
NM_001081.3(CUBN):c.7955C>A (p.Ser2652Ter) rs1554790861
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser) rs119103232
NM_001609.3(ACADSB):c.1128+3A>T rs760423996
NM_002225.5(IVD):c.599del (p.Pro200fs) rs1566936542
NM_005050.4(ABCD4):c.1346C>T (p.Thr449Met)
NM_015506.2(MMACHC):c.271dupA rs398124292
NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys) rs201617713
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_015702.3(MMADHC):c.607A>G (p.Lys203Glu) rs1553453961
NM_020166.5(MCCC1):c.1701G>A (p.Thr567=) rs377320336
NM_020166.5(MCCC1):c.239G>A (p.Ser80Asn) rs774565207
NM_020166.5(MCCC1):c.794A>G (p.His265Arg) rs759707763
NM_052845.4(MMAB):c.571C>T (p.Arg191Trp) rs376128990
NM_145261.4(DNAJC19):c.62A>T (p.Tyr21Phe)
NM_172250.3(MMAA):c.295G>A (p.Ala99Thr) rs1553957915
NM_172250.3(MMAA):c.664A>G (p.Arg222Gly) rs920825350
NM_174917.5(ACSF3):c.1081G>A (p.Gly361Ser) rs145285434

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