List of variants in gene GPC4 reported as pathogenic for Keipert 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: 7

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HGVS	dbSNP	gnomAD frequency
NM_001448.3(GPC4):c.1051C>T (p.Arg351Ter)	rs2520399910
NM_001448.3(GPC4):c.1486G>T (p.Glu496Ter)	rs1556022644
NM_001448.3(GPC4):c.1516C>T (p.Gln506Ter)	rs1556022641
NM_001448.3(GPC4):c.1518_1521dup (p.Pro508fs)	rs1569339879
NM_001448.3(GPC4):c.316del (p.Asp106fs)	rs1556028269
NM_001448.3(GPC4):c.701dup (p.Val235fs)	rs1556025980
NM_001448.3(GPC4):c.742del (p.Leu248fs)	rs1569341521

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