List of variants in gene LTBP4 reported as pathogenic for congenital entropion

Minimum submission review status:		Collection method:
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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: 11

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HGVS	dbSNP	gnomAD frequency
NM_003573.2(LTBP4):c.254del (p.Leu85fs)	rs747013505	0.00010
NM_001042545.2(LTBP4):c.1252C>T (p.Arg418Ter)	rs397515430	0.00001
NM_003573.2(LTBP4):c.76-1G>A	rs781735457	0.00001
NM_001042545.2(LTBP4):c.1360del (p.Arg454fs)	rs1307726290
NM_001042545.2(LTBP4):c.1828C>T (p.Gln610Ter)	rs1568406407
NM_001042545.2(LTBP4):c.2029C>T (p.Arg677Ter)	rs2146029786
NM_001042545.2(LTBP4):c.2481C>A (p.Cys827Ter)	rs267607228
NM_001042545.2(LTBP4):c.3464del (p.Gln1155fs)	rs606231159
NM_001042545.2(LTBP4):c.4025dup (p.Tyr1343fs)	rs797044471
NM_001042545.2(LTBP4):c.4037dup (p.Arg1347fs)	rs606231161
NM_001042545.2(LTBP4):c.4039C>T (p.Arg1347Ter)	rs1382026467

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