ClinVar Miner

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

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_000255.4(MMUT):c.1495G>A (p.Ala499Thr) rs2229385
NM_001370658.1(BTD):c.820A>G (p.Ile274Val) rs35976361
NM_001609.4(ACADSB):c.1128+20_1128+26dup rs10571424
NM_005050.4(ABCD4):c.1411C>T (p.Arg471Trp) rs45568335

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