Indigenome VS ClinVar IDs Relevant information available in ClinVar
Variant Identifiers ClinVar Name Variant Type Clinical Significance Phenotype Condition Review Status Variation/condition record
IndiGenomes: chr16:88810517:G>A
 
ClinVar:           chr16:88810517:G>A 		NM_000485.3(APRT):c.227C>T (p.Ala76Val) SNV
Pathogenic Adenine phosphoribosyltransferase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV001269439