ClinVar Miner

List of variants reported as likely pathogenic for classic organic aciduria by Mendelics

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_000255.4(MMUT):c.959C>T (p.Ala320Val) rs1581832011
NM_001352514.2(HLCS):c.2585A>C (p.Asp862Ala) rs752737867
NM_001370658.1(BTD):c.250-15del rs587783008
NM_001370658.1(BTD):c.262A>G (p.Ile88Val) rs976185636
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser) rs119103232
NM_001370658.1(BTD):c.496T>G (p.Cys166Gly) rs955385869
NM_001370658.1(BTD):c.705C>G (p.Ile235Met) rs1575029719
NM_052845.4(MMAB):c.548A>T (p.His183Leu) rs752866643

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