ClinVar Miner

List of variants in gene EBF3 reported by Mendelics

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001375380.1(EBF3):c.1128+1G>C rs797046136
NM_001375380.1(EBF3):c.1373-11del rs68001511
NM_001375380.1(EBF3):c.188G>A (p.Arg63Gln) rs2134659487
NM_001375380.1(EBF3):c.422A>G (p.Tyr141Cys) rs1057519519
NM_001375380.1(EBF3):c.574_576del (p.Leu192del) rs2134129924

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