ClinVar Miner

List of variants in gene DEAF1 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_021008.4(DEAF1):c.1003G>A (p.Val335Met) rs375032027 0.00016
NM_021008.4(DEAF1):c.221G>A (p.Gly74Glu) rs748707692 0.00002
NM_021008.4(DEAF1):c.1652A>G (p.Asp551Gly) rs1456474946 0.00001
NM_021008.4(DEAF1):c.871-3C>T rs868449291 0.00001
NM_021008.4(DEAF1):c.1209C>T (p.Ile403=) rs540108800
NM_021008.4(DEAF1):c.1573T>A (p.Ser525Thr) rs920042217
NM_021008.4(DEAF1):c.1645C>T (p.Gln549Ter)
NM_021008.4(DEAF1):c.251C>G (p.Pro84Arg)
NM_021008.4(DEAF1):c.380A>G (p.His127Arg) rs757482202
NM_021008.4(DEAF1):c.641T>C (p.Leu214Pro) rs1590017658
NM_021008.4(DEAF1):c.646A>G (p.Lys216Glu) rs1590017652
NM_021008.4(DEAF1):c.658G>A (p.Gly220Ser) rs751569402
NM_021008.4(DEAF1):c.757A>G (p.Lys253Glu) rs1590016441
NM_021008.4(DEAF1):c.825C>G (p.His275Gln) rs144498322
NM_021008.4(DEAF1):c.869T>C (p.Leu290Ser)

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