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: chr21:44287537:C>T
 
ClinVar:           chr21:44287537:GC>G 		NM_000383.4(AIRE):c.489del (p.Lys164fs) Deletion
Pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter

1 SubmittersRCV001388926
IndiGenomes: chr21:44293150:T>C
 
ClinVar:           chr21:44293150:CTG>C 		NM_000383.4(AIRE):c.1259_1260del (p.Val420fs) Microsatellite
Pathogenic Polyglandular autoimmune syndrome, type 1 Criteria Provided
Single Submitter

1 SubmittersRCV001906291