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: chr9:101425510:G>T
 
ClinVar:           chr9:101425510:G>A 		NM_000035.4(ALDOB):c.742C>T (p.Gln248Ter) SNV
Pathogenic/Likely pathogenic Hereditary fructosuria Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003468125
IndiGenomes: chr9:101427578:C>G
 
ClinVar:           chr9:101427578:C>T 		NM_000035.4(ALDOB):c.444G>A (p.Trp148Ter) SNV
Pathogenic Hereditary fructosuria Criteria Provided
Multiple Submitters
No Conflicts

4 SubmittersRCV000410511
IndiGenomes: chr9:101429754:C>T
 
ClinVar:           chr9:101429754:C>T 		NM_000035.4(ALDOB):c.324+1G>A SNV
Pathogenic Hereditary fructosuria Criteria Provided
Multiple Submitters
No Conflicts

6 SubmittersRCV000202622