ClinVar Miner

List of variants in gene EBF3 studied for Inborn genetic diseases

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_001375380.1(EBF3):c.298A>G (p.Asn100Asp) rs1859643808 0.00001
NM_001375380.1(EBF3):c.856G>A (p.Asp286Asn) rs774203238 0.00001
NM_001375380.1(EBF3):c.1081C>T (p.Gln361Ter) rs1850628942
NM_001375380.1(EBF3):c.1153G>C (p.Asp385His)
NM_001375380.1(EBF3):c.1172_1177del (p.Tyr391_Met393delinsLeu)
NM_001375380.1(EBF3):c.1221C>G (p.Asp407Glu)
NM_001375380.1(EBF3):c.1282A>G (p.Asn428Asp)
NM_001375380.1(EBF3):c.1291C>T (p.His431Tyr) rs370659346
NM_001375380.1(EBF3):c.1306G>A (p.Gly436Ser)
NM_001375380.1(EBF3):c.134+4C>T
NM_001375380.1(EBF3):c.1373-2del
NM_001375380.1(EBF3):c.1749T>G (p.Asn583Lys)
NM_001375380.1(EBF3):c.196A>G (p.Asn66Asp) rs1057519518
NM_001375380.1(EBF3):c.289_291+1del rs1859684230
NM_001375380.1(EBF3):c.29G>A (p.Arg10His)
NM_001375380.1(EBF3):c.35G>A (p.Gly12Glu)
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.488G>A (p.Arg163Gln) rs1057519389
NM_001375380.1(EBF3):c.490T>G (p.Cys164Gly) rs1859111016
NM_001375380.1(EBF3):c.501_503del (p.Lys168del) rs1859110479
NM_001375380.1(EBF3):c.537_544del (p.Pro180fs)
NM_001375380.1(EBF3):c.539C>A (p.Pro180His) rs1859108380
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.62G>C (p.Gly21Ala)
NM_001375380.1(EBF3):c.634C>T (p.Gln212Ter) rs1852896440
NM_001375380.1(EBF3):c.647C>T (p.Ser216Leu)
NM_001375380.1(EBF3):c.686C>T (p.Ser229Leu) rs1852552180
NM_001375380.1(EBF3):c.6T>G (p.Phe2Leu)
NM_001375380.1(EBF3):c.934C>T (p.Arg312Ter) rs1064796669
NM_001375380.1(EBF3):c.950C>T (p.Pro317Leu)
NM_001375380.1(EBF3):c.955C>T (p.His319Tyr)
NM_001375380.1(EBF3):c.983T>A (p.Leu328His)

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