ClinVar Miner

List of variants studied for classic organic aciduria by GenomeConnect, ClinGen

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_000532.5(PCCB):c.11_28dup (p.Ala4_Ala9dup) rs777359703
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139
NM_001370658.1(BTD):c.68A>G (p.His23Arg) rs146011150
NM_014384.2(ACAD8):c.1129G>A (p.Gly377Ser) rs121908419
NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp) rs200483477
NM_018368.4(LMBRD1):c.1438A>G (p.Thr480Ala) rs138023744
NM_018368.4(LMBRD1):c.1510G>T (p.Val504Leu) rs980145400
NM_020166.5(MCCC1):c.1894C>T (p.Pro632Ser) rs142867987
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn) rs140806722
NM_025136.4(OPA3):c.55G>A (p.Val19Ile) rs1343690502

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