List of variants in gene EBF3 reported as likely pathogenic by Ambry Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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_001375380.1(EBF3):c.196A>G (p.Asn66Asp)	rs1057519518
NM_001375380.1(EBF3):c.386G>C (p.Arg129Pro)	rs1859577030
NM_001375380.1(EBF3):c.422A>G (p.Tyr141Cys)	rs1057519519
NM_001375380.1(EBF3):c.490T>G (p.Cys164Gly)	rs1859111016
NM_001375380.1(EBF3):c.625C>T (p.Arg209Trp)	rs779003155
NM_001375380.1(EBF3):c.626G>A (p.Arg209Gln)	rs1131692261
NM_001375380.1(EBF3):c.686C>T (p.Ser229Leu)	rs1852552180
NM_001375380.1(EBF3):c.983T>A (p.Leu328His)

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