ClinVar Miner

List of variants studied for classic organic aciduria by Pars Genome Lab

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP
NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp) rs147538370
NM_001352514.2(HLCS):c.951C>T (p.Ser317=) rs185480832
NM_001363880.1(MCCC1):c.-290G>C rs937652
NM_001370658.1(BTD):c.820A>G (p.Ile274Val) rs35976361
NM_015506.3(MMACHC):c.766_771del (p.Ala256_Pro257del) rs796064513
NM_020166.5(MCCC1):c.1391A>C (p.His464Pro) rs2270968
NM_020166.5(MCCC1):c.1594+39T>C rs2270969
NM_020166.5(MCCC1):c.1681+77C>T
NM_020166.5(MCCC1):c.1732-208T>C
NM_020166.5(MCCC1):c.1978-57G>T
NM_020166.5(MCCC1):c.1978-86A>C
NM_020166.5(MCCC1):c.273+53A>C rs3732604
NM_020166.5(MCCC1):c.369+96C>T
NM_020166.5(MCCC1):c.396C>T (p.Leu132=) rs7622479
NM_020166.5(MCCC1):c.874-95A>G
NM_172250.3(MMAA):c.-56A>G rs4835011
NM_172250.3(MMAA):c.1089G>C (p.Gln363His) rs2270655
NM_172250.3(MMAA):c.734-74G>A
NM_172250.3(MMAA):c.747G>A (p.Ser249=) rs11721553

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