ClinVar Miner

List of variants reported as pathogenic for 8q24.3 microdeletion syndrome by Baylor Genetics

Included ClinVar conditions (1):

8q24.3 microdeletion syndrome

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 8q24.3(chr8:144879444-145199846)
NM_078480.3(PUF60):c.1381-2A>G	rs1057518681
NM_078480.3(PUF60):c.628C>T (p.Gln210Ter)	rs1816565787

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