ClinVar Miner

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

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Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_021008.4(DEAF1):c.774C>T (p.Tyr258=) rs117691319 0.01031
NM_021008.4(DEAF1):c.882C>G (p.Val294=) rs35887544 0.00757
NM_021008.4(DEAF1):c.1634C>G (p.Ala545Gly) rs34114147 0.00680
NM_021008.4(DEAF1):c.825C>T (p.His275=) rs144498322 0.00310
NM_021008.4(DEAF1):c.727A>G (p.Met243Val) rs71469813 0.00284
NM_021008.4(DEAF1):c.162G>C (p.Ser54=) rs141389829 0.00133
NM_021008.4(DEAF1):c.231C>T (p.Asp77=) rs371538775 0.00130
NM_021008.4(DEAF1):c.56T>C (p.Val19Ala) rs767318857 0.00124
NM_021008.4(DEAF1):c.517+8G>A rs369913079 0.00048
NM_021008.4(DEAF1):c.1640C>G (p.Thr547Ser) rs111947578 0.00046
NM_021008.4(DEAF1):c.855C>T (p.Cys285=) rs373861624 0.00036
NM_021008.4(DEAF1):c.1003G>A (p.Val335Met) rs375032027 0.00016
NM_021008.4(DEAF1):c.1182C>T (p.Tyr394=) rs202179285 0.00014
NM_021008.4(DEAF1):c.1518C>T (p.Asn506=) rs765778708 0.00005
NM_021008.4(DEAF1):c.1620C>T (p.Cys540=) rs145256931 0.00005
NM_021008.4(DEAF1):c.517+7C>T rs373778878 0.00004
NM_021008.4(DEAF1):c.939C>T (p.Pro313=) rs377002477 0.00004
NM_021008.4(DEAF1):c.411C>T (p.Ile137=) rs373131091 0.00003
NM_021008.4(DEAF1):c.219C>A (p.Pro73=) rs758787132 0.00002
NM_021008.4(DEAF1):c.221G>A (p.Gly74Glu) rs748707692 0.00002
NM_021008.4(DEAF1):c.1242A>G (p.Ser414=) rs1031046120 0.00001
NM_021008.4(DEAF1):c.1652A>G (p.Asp551Gly) rs1456474946 0.00001
NM_021008.4(DEAF1):c.216G>A (p.Glu72=) rs12799262 0.00001
NM_021008.4(DEAF1):c.871-3C>T rs868449291 0.00001
NM_021008.4(DEAF1):c.1084T>C (p.Ser362Pro)
NM_021008.4(DEAF1):c.1113C>T (p.Phe371=)
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.1593+3910GTTTTT[6]
NM_021008.4(DEAF1):c.1594-1719G>A
NM_021008.4(DEAF1):c.1645C>T (p.Gln549Ter)
NM_021008.4(DEAF1):c.237C>T (p.Gly79=)
NM_021008.4(DEAF1):c.251C>G (p.Pro84Arg)
NM_021008.4(DEAF1):c.289+8C>T rs984340885
NM_021008.4(DEAF1):c.375A>C (p.Ser125=)
NM_021008.4(DEAF1):c.380A>G (p.His127Arg) rs757482202
NM_021008.4(DEAF1):c.429C>T (p.Thr143=)
NM_021008.4(DEAF1):c.438G>A (p.Ala146=)
NM_021008.4(DEAF1):c.51_92del (p.Val19_Ala32del) rs758496577
NM_021008.4(DEAF1):c.56_57delinsCC (p.Val19Ala)
NM_021008.4(DEAF1):c.56_79del (p.Val19_Ala26del)
NM_021008.4(DEAF1):c.56_82del (p.Val19_Ala27del) rs768085739
NM_021008.4(DEAF1):c.57G>C (p.Val19=)
NM_021008.4(DEAF1):c.60_86del (p.Val25_Ala33del) rs769664625
NM_021008.4(DEAF1):c.634G>A (p.Gly212Ser) rs1057519565
NM_021008.4(DEAF1):c.63C>G (p.Ala21=)
NM_021008.4(DEAF1):c.63_80del (p.19VAAAAA[1])
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.658G>T (p.Gly220Cys)
NM_021008.4(DEAF1):c.670C>T (p.Arg224Trp) rs587777408
NM_021008.4(DEAF1):c.700T>G (p.Trp234Gly) rs1057524157
NM_021008.4(DEAF1):c.72_95del (p.Val25_Ala32del) rs752994574
NM_021008.4(DEAF1):c.757A>G (p.Lys253Glu) rs1590016441
NM_021008.4(DEAF1):c.759_763del (p.Arg254fs)
NM_021008.4(DEAF1):c.81G>C (p.Ala27=)
NM_021008.4(DEAF1):c.825C>G (p.His275Gln) rs144498322
NM_021008.4(DEAF1):c.851G>A (p.Cys284Tyr) rs1590013404
NM_021008.4(DEAF1):c.869T>C (p.Leu290Ser)
NM_021008.4(DEAF1):c.87C>G (p.Ala29=)
NM_021008.4(DEAF1):c.970T>C (p.Leu324=)

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