ClinVar Miner

List of variants reported as uncertain significance for classic organic aciduria by Mendelics

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_000191.3(HMGCL):c.392C>T (p.Ser131Leu) rs1570650181
NM_000255.4(MMUT):c.1011T>A (p.Phe337Leu) rs1581831934
NM_000255.4(MMUT):c.1315T>G (p.Tyr439Asp) rs1581829908
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu) rs118169528
NM_000532.5(PCCB):c.611C>T (p.Ala204Val) rs760499581
NM_001017989.3(OPA3):c.184G>A (p.Gly62Ser) rs140959406
NM_001370658.1(BTD):c.38G>T (p.Cys13Phe) rs141131444
NM_001370658.1(BTD):c.908A>G (p.His303Arg) rs397507176
NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys) rs201617713
NM_015702.3(MMADHC):c.136G>C (p.Ala46Pro) rs749521854
NM_032861.4(SERAC1):c.21C>G (p.Cys7Trp) rs139301835

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