List of variants in gene ZBTB24 reported as likely pathogenic for immunodeficiency-centromeric instability-facial anomalies syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_014797.3(ZBTB24):c.1369C>T (p.Arg457Ter)	rs387907106	0.00001
NM_014797.3(ZBTB24):c.1120+1G>A	rs2482871841
NM_014797.3(ZBTB24):c.1121-2A>G	rs1776276356
NM_014797.3(ZBTB24):c.1204+1G>A	rs1175562986
NM_014797.3(ZBTB24):c.1204+1G>C	rs1175562986
NM_014797.3(ZBTB24):c.1289-2A>G
NM_014797.3(ZBTB24):c.1289-2A>T	rs750997585
NM_014797.3(ZBTB24):c.1371-3_1371del
NM_014797.3(ZBTB24):c.1634_1635del (p.Ser545fs)
NM_014797.3(ZBTB24):c.437_952+408del	rs2482879619
NM_014797.3(ZBTB24):c.747_754dup (p.Arg252fs)	rs2482881376
NM_014797.3(ZBTB24):c.783del (p.Val262fs)

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