ClinVar Miner

List of variants in gene EBF3 reported by OMIM

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001375380.1(EBF3):c.196A>G (p.Asn66Asp) rs1057519518
NM_001375380.1(EBF3):c.280_283del (p.Glu94fs) rs1057519521
NM_001375380.1(EBF3):c.422A>G (p.Tyr141Cys) rs1057519519
NM_001375380.1(EBF3):c.488G>A (p.Arg163Gln) rs1057519389
NM_001375380.1(EBF3):c.488G>C (p.Arg163Pro) rs1057519389
NM_001375380.1(EBF3):c.488G>T (p.Arg163Leu) rs1057519389
NM_001375380.1(EBF3):c.530C>T (p.Pro177Leu) rs869312668
NM_001375380.1(EBF3):c.579G>T (p.Lys193Asn) rs1057519520
NM_001375380.1(EBF3):c.616C>T (p.Arg206Ter) rs1057519522
NM_001375380.1(EBF3):c.625C>T (p.Arg209Trp) rs779003155

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