List of variants in gene ZNF469 reported as pathogenic for hereditary disorder of connective tissue

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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: 9

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HGVS	dbSNP	gnomAD frequency
NM_001367624.2(ZNF469):c.1444del (p.Leu482fs)	rs1484586294
NM_001367624.2(ZNF469):c.3307C>T (p.Gln1103Ter)	rs1906110243
NM_001367624.2(ZNF469):c.3491del (p.Gly1164fs)
NM_001367624.2(ZNF469):c.4258G>T (p.Glu1420Ter)	rs387907063
NM_001367624.2(ZNF469):c.6027del (p.Gly2011fs)	rs1597210953
NM_001367624.2(ZNF469):c.612_619dup (p.Ala207fs)
NM_001367624.2(ZNF469):c.628_629delinsA (p.Pro210fs)
NM_001367624.2(ZNF469):c.6444del (p.Gln2149fs)	rs886044697
NM_001367624.2(ZNF469):c.9615del (p.Gln3206fs)	rs2142314304

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