ClinVar Miner

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

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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NM_000116.5(TAFAZZIN):c.29C>G (p.Pro10Arg) rs781941217
NM_000255.4(MMUT):c.191C>T (p.Pro64Leu) rs575038087
NM_000532.5(PCCB):c.373-1246G>A rs996480567
NM_000532.5(PCCB):c.889C>T (p.Arg297Cys) rs549397464
NM_001001563.5(TIMM50):c.671G>T (p.Arg224Ile)
NM_001243279.3(ACSF3):c.1081G>A (p.Gly361Ser) rs145285434
NM_001258392.3(CLPB):c.1361T>C (p.Ile454Thr)
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser) rs119103232
NM_001609.3(ACADSB):c.1128+3A>T rs760423996
NM_005050.4(ABCD4):c.1346C>T (p.Thr449Met) rs969369250
NM_015506.2(MMACHC):c.271dupA rs398124292
NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys) rs201617713
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_145261.4(DNAJC19):c.62A>T (p.Tyr21Phe) rs752913622
NM_172250.3(MMAA):c.295G>A (p.Ala99Thr) rs1553957915
NM_172250.3(MMAA):c.970G>A (p.Val324Ile)

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