ClinVar Miner

List of variants reported as likely pathogenic for 8q24.3 microdeletion syndrome by Revvity Omics, Revvity

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_078480.3(PUF60):c.24+1G>T	rs1064795388
NM_078480.3(PUF60):c.472del (p.Ile158fs)	rs2130256693
NM_078480.3(PUF60):c.713C>G (p.Ser238Ter)	rs1554643099

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