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: chr1:160285116:G>A
 
ClinVar:           chr1:160285116:CG>C
NM_002857.4(PEX19):c.9del (p.Ala4fs) Deletion
Pathogenic Peroxisome biogenesis disorder 12A (Zellweger) Criteria Provided
Single Submitter

1 SubmittersRCV002829597