List of variants in gene ZNF469 reported as likely pathogenic for brittle cornea 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: 15

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HGVS	dbSNP	gnomAD frequency
NM_001367624.2(ZNF469):c.19C>T (p.Arg7Ter)	rs1004428835	0.00037
NM_001367624.2(ZNF469):c.10324del (p.Arg3442fs)	rs756543273	0.00004
NM_001367624.2(ZNF469):c.10707C>A (p.Cys3569Ter)	rs760186083	0.00001
NM_001367624.2(ZNF469):c.10332del (p.Arg3445fs)	rs764470052
NM_001367624.2(ZNF469):c.1081del (p.Ala361fs)	rs1905872842
NM_001367624.2(ZNF469):c.1586del (p.Gly529fs)	rs1905923050
NM_001367624.2(ZNF469):c.4112dup (p.Pro1373fs)
NM_001367624.2(ZNF469):c.5402del (p.Val1801fs)
NM_001367624.2(ZNF469):c.5613_5622del (p.Arg1871fs)
NM_001367624.2(ZNF469):c.6444del (p.Gln2149fs)	rs886044697
NM_001367624.2(ZNF469):c.7874_7877dup (p.His2626fs)
NM_001367624.2(ZNF469):c.8350C>T (p.Arg2784Ter)	rs1172315984
NM_001367624.2(ZNF469):c.8428del (p.Ala2810fs)	rs2142312393
NM_001367624.2(ZNF469):c.9268C>T (p.Arg3090Ter)	rs764139968
NM_001367624.2(ZNF469):c.9876dup (p.Ala3293fs)	rs1906662179

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