ClinVar Miner

List of variants reported as benign for classic organic aciduria by Research and Development, ARUP Laboratories

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_001370658.1(BTD):c.-94C>T rs114567021
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser) rs35034250
NM_001370658.1(BTD):c.1224C>T (p.Tyr408=) rs35145938
NM_001370658.1(BTD):c.1353T>C (p.Cys451=) rs3817641
NM_001370658.1(BTD):c.151C>T (p.Leu51=) rs397514342
NM_001370658.1(BTD):c.174C>T (p.Ser58=) rs397514344
NM_001370658.1(BTD):c.201C>T (p.Asn67=) rs147057169
NM_001370658.1(BTD):c.339G>A (p.Pro113=) rs181743799
NM_001370658.1(BTD):c.384C>A (p.Arg128=) rs397514358
NM_001370658.1(BTD):c.39C>T (p.Cys13=) rs201564216
NM_001370658.1(BTD):c.400-8dup rs397514361
NM_001370658.1(BTD):c.585C>T (p.Leu195=) rs145388314

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