List of variants in gene EBF3 reported as likely pathogenic for developmental defect during embryogenesis

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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: 27

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HGVS	dbSNP	gnomAD frequency
NM_001375380.1(EBF3):c.1151C>T (p.Ala384Val)	rs1268207836
NM_001375380.1(EBF3):c.1185_1186del (p.His395fs)
NM_001375380.1(EBF3):c.1454_1455del (p.Thr485fs)
NM_001375380.1(EBF3):c.187C>T (p.Arg63Trp)	rs2134659512
NM_001375380.1(EBF3):c.188G>A (p.Arg63Gln)	rs2134659487
NM_001375380.1(EBF3):c.326A>C (p.His109Pro)	rs1484783852
NM_001375380.1(EBF3):c.412-2A>T	rs1859264278
NM_001375380.1(EBF3):c.422A>G (p.Tyr141Cys)	rs1057519519
NM_001375380.1(EBF3):c.428G>A (p.Gly143Asp)	rs1589962586
NM_001375380.1(EBF3):c.454C>T (p.Arg152Cys)	rs2134623972
NM_001375380.1(EBF3):c.455G>C (p.Arg152Pro)
NM_001375380.1(EBF3):c.461_462delinsCT (p.Leu154Pro)	rs1564927062
NM_001375380.1(EBF3):c.486-12A>G
NM_001375380.1(EBF3):c.487C>G (p.Arg163Gly)	rs1057519092
NM_001375380.1(EBF3):c.491G>C (p.Cys164Ser)	rs2134610864
NM_001375380.1(EBF3):c.505A>G (p.Ser169Gly)	rs2134610777
NM_001375380.1(EBF3):c.530C>T (p.Pro177Leu)	rs869312668
NM_001375380.1(EBF3):c.548_551del (p.Ile183fs)	rs2134610480
NM_001375380.1(EBF3):c.554G>A (p.Arg185Lys)	rs1554934855
NM_001375380.1(EBF3):c.574_576del (p.Leu192del)	rs2134129924
NM_001375380.1(EBF3):c.577A>G (p.Lys193Glu)	rs886040976
NM_001375380.1(EBF3):c.589A>G (p.Asn197Asp)	rs2134129845
NM_001375380.1(EBF3):c.631T>C (p.Phe211Leu)	rs2134129636
NM_001375380.1(EBF3):c.656T>C (p.Val219Ala)	rs1852554969
NM_001375380.1(EBF3):c.663_685del (p.Asp222fs)
NM_001375380.1(EBF3):c.701T>C (p.Val234Ala)
NM_001375380.1(EBF3):c.947dup (p.Pro317fs)

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