ClinVar Miner

List of variants in gene EBF3 reported as pathogenic for Hypotonia, ataxia, and delayed development syndrome

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NC_000010.10:g.(131676114_131755521)_(131762539_?)del
NM_001375380.1(EBF3):c.1128+1G>C rs797046136
NM_001375380.1(EBF3):c.1210C>T (p.Arg404Ter) rs1564816319
NM_001375380.1(EBF3):c.1346C>G (p.Ser449Ter)
NM_001375380.1(EBF3):c.1435C>T (p.Gln479Ter)
NM_001375380.1(EBF3):c.163G>T (p.Glu55Ter) rs1589974634
NM_001375380.1(EBF3):c.196A>G (p.Asn66Asp) rs1057519518
NM_001375380.1(EBF3):c.239dup (p.Pro81fs) rs2134659091
NM_001375380.1(EBF3):c.280_283del (p.Glu94fs) rs1057519521
NM_001375380.1(EBF3):c.291+2del rs1859684125
NM_001375380.1(EBF3):c.422A>G (p.Tyr141Cys) rs1057519519
NM_001375380.1(EBF3):c.481T>A (p.Cys161Ser) rs1859258788
NM_001375380.1(EBF3):c.486-1G>A rs1131692258
NM_001375380.1(EBF3):c.487C>T (p.Arg163Trp) rs1057519092
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.593G>A (p.Cys198Tyr) rs1554904330
NM_001375380.1(EBF3):c.616C>T (p.Arg206Ter) rs1057519522
NM_001375380.1(EBF3):c.622dup (p.Met208fs) rs2134129705
NM_001375380.1(EBF3):c.625C>T (p.Arg209Trp) rs779003155
NM_001375380.1(EBF3):c.636+1G>A rs1589767274
NM_001375380.1(EBF3):c.705CAA[1] (p.Asn237del) rs2134108087
NM_001375380.1(EBF3):c.833dup (p.Ala279fs) rs1589745620
NM_001375380.1(EBF3):c.934C>T (p.Arg312Ter) rs1064796669

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