ClinVar Miner

Submissions for variant NM_000579.4(CCR5):c.-229C>T

gnomAD frequency: 0.06264  dbSNP: rs41469351
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
H3Africa Consortium RCV001777133 SCV002014665 benign not specified 2020-10-28 criteria provided, single submitter research While the frequency of the alternate allele in gnoMAD v2.0.2 is 0.232, its frequency in African populations is >5%. This suggests that previous classifications of this variant as pathogenic are in error.
OMIM RCV000008672 SCV000028881 pathogenic Human immunodeficiency virus type 1, increased perinatal transmission of 1999-12-01 no assertion criteria provided literature only

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