List of variants in gene COL11A1 reported as pathogenic for ectodermal dysplasia 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: 11

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HGVS	dbSNP	gnomAD frequency
NM_001854.4(COL11A1):c.2143G>A (p.Gly715Arg)
NM_001854.4(COL11A1):c.2241+5G>T	rs2101800665
NM_001854.4(COL11A1):c.3814_3816+1del	rs2101038943
NM_001854.4(COL11A1):c.3816+1G>A	rs398122828
NM_001854.4(COL11A1):c.3816+1G>C	rs398122828
NM_001854.4(COL11A1):c.3816+2dup	rs1469787406
NM_001854.4(COL11A1):c.3816+5G>A	rs1057524237
NM_001854.4(COL11A1):c.4084C>T (p.Arg1362Ter)	rs755987732
NM_001854.4(COL11A1):c.4519-2del	rs2100852418
NM_001854.4(COL11A1):c.4547G>T (p.Gly1516Val)	rs1553193910
NM_080629.2(COL11A1):c.2796_2813delTCAAGGACCTCAGGGTCC

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