Total 6 pathogenic variants reported for Properdin deficiency 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001145252.3(CFP):c.481C>T (p.Arg161Ter) SNV
Germline
ChrX:47627564 Pathogenic Properdin deficiency, X-linked No Assertion Criteria Provided
CA121391 rs_132630258

1 SubmittersRCV000011931

NM_001145252.3(CFP):c.893G>T (p.Gly298Val) SNV
Germline
ChrX:47626820 Pathogenic Properdin deficiency, X-linked No Assertion Criteria Provided
CA121398 rs_28935480

1 SubmittersRCV000011933

NM_001145252.3(CFP):c.617C>G (p.Ser206Ter) SNV
Germline
ChrX:47627290 Pathogenic Properdin deficiency, X-linked No Assertion Criteria Provided
CA121401 rs_132630260

1 SubmittersRCV000011934

NM_001145252.3(CFP):c.1240T>G (p.Tyr414Asp) SNV
Germline
ChrX:47626062 Pathogenic Properdin deficiency, type III No Assertion Criteria Provided
CA121405 rs_132630261

1 SubmittersRCV000011935

NM_001145252.3(CFP):c.716C>T (p.Pro239Leu) SNV
Germline
ChrX:47627191 Conflicting classifications of pathogenicity Condition: not provided
Properdin deficiency, X-linked
Criteria Provided
Conflicting Classifications
rs_200036265

2 SubmittersRCV001027815RCV003224510

NM_001145252.3(CFP):c.767-2A>T SNV
Germline
ChrX:47626948 Likely pathogenic Properdin deficiency, X-linked Criteria Provided
Single Submitter

1 SubmittersRCV003990283