List of variants in gene AEBP1 reported as pathogenic for Ehlers-Danlos 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: 8

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HGVS	dbSNP	gnomAD frequency
NM_001129.5(AEBP1):c.1743C>A (p.Cys581Ter)	rs777647845	0.00002
NM_001129.5(AEBP1):c.1630+1G>A	rs369016031	0.00001
NM_001129.5(AEBP1):c.1925T>C (p.Leu642Pro)	rs753531562	0.00001
NM_001129.5(AEBP1):c.917dup (p.Tyr306Ter)	rs1443187318	0.00001
NM_001129.5(AEBP1):c.1067G>A (p.Trp356Ter)	rs2096226168
NM_001129.5(AEBP1):c.1320_1326del (p.Arg440fs)	rs1554327284
NM_001129.5(AEBP1):c.1470del (p.Asn490fs)	rs1554327449
NM_001129.5(AEBP1):c.2853C>A (p.Tyr951Ter)	rs2096232673

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