ClinVar Miner

List of variants in gene DOK7 reported as uncertain significance by GeneDx

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_173660.5(DOK7):c.641C>T (p.Pro214Leu) rs147760280 0.00102
NM_173660.5(DOK7):c.816C>G (p.His272Gln) rs115614731 0.00098
NM_173660.5(DOK7):c.1171G>A (p.Gly391Arg) rs144158112 0.00068
NM_173660.5(DOK7):c.1258C>G (p.Pro420Ala) rs150497723 0.00045
NM_001301071.2(DOK7):c.1594G>A (p.Glu532Lys) rs754345718 0.00030
NM_001301071.2(DOK7):c.1502C>T (p.Ala501Val) rs543548330 0.00029
NM_173660.5(DOK7):c.1425G>T (p.Trp475Cys) rs777626370 0.00029
NM_173660.5(DOK7):c.1090C>T (p.Arg364Trp) rs577156980 0.00017
NM_173660.5(DOK7):c.971C>T (p.Pro324Leu) rs546889092 0.00011
NM_173660.5(DOK7):c.1354C>T (p.Arg452Trp) rs375116985 0.00010
NM_173660.5(DOK7):c.1403G>A (p.Gly468Asp) rs767909551 0.00009
NM_173660.5(DOK7):c.1133C>T (p.Ala378Val) rs371846002 0.00006
NM_173660.5(DOK7):c.1393A>G (p.Thr465Ala) rs765625554 0.00006
NM_173660.5(DOK7):c.155G>A (p.Arg52Gln) rs201953114 0.00006
NM_173660.5(DOK7):c.973C>T (p.Arg325Trp) rs376280466 0.00006
NM_173660.5(DOK7):c.952C>A (p.Pro318Thr) rs754476094 0.00004
NM_173660.5(DOK7):c.1262C>A (p.Pro421His) rs373261147 0.00003
NM_173660.5(DOK7):c.1451C>T (p.Pro484Leu) rs1057518522 0.00003
NM_173660.5(DOK7):c.674C>T (p.Ser225Leu) rs769699131 0.00003
NM_173660.5(DOK7):c.97G>T (p.Ala33Ser) rs1425852835 0.00002
NM_001301071.2(DOK7):c.1570C>T (p.Pro524Ser) rs1355513098 0.00001
NM_173660.5(DOK7):c.1268A>G (p.Gln423Arg) rs756360879 0.00001
NM_173660.5(DOK7):c.1412C>T (p.Pro471Leu) rs535473251 0.00001
NM_173660.5(DOK7):c.475C>T (p.Arg159Cys) rs368891521 0.00001
NM_173660.5(DOK7):c.1037C>T (p.Ser346Phe)
NM_173660.5(DOK7):c.1258C>T (p.Pro420Ser) rs150497723
NM_173660.5(DOK7):c.1373C>T (p.Ala458Val) rs778440478
NM_173660.5(DOK7):c.1403_1408del (p.Gly468_Pro469del) rs762148551
NM_173660.5(DOK7):c.1445C>T (p.Ala482Val) rs767980190
NM_173660.5(DOK7):c.1487G>C (p.Gly496Ala) rs373205256
NM_173660.5(DOK7):c.1487G>T (p.Gly496Val) rs373205256

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