ClinVar Miner

List of variants reported as uncertain significance for classic organic aciduria by Nilou-Genome Lab

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_000255.4(MMUT):c.1991C>T (p.Ala664Val) rs137958217
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu) rs118169528
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln) rs150555106
NM_001243279.3(ACSF3):c.1081G>A (p.Gly361Ser) rs145285434
NM_001243279.3(ACSF3):c.31C>T (p.Arg11Cys) rs901081235
NM_001352514.2(HLCS):c.865G>A (p.Val289Ile) rs149291867
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys) rs369102875
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu) rs201312386
NM_015506.3(MMACHC):c.848G>C (p.Ter283Ser) rs201025783

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