ClinVar Miner

List of variants in gene DOK7 reported by Ambry Genetics

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Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_173660.5(DOK7):c.1171G>A (p.Gly391Arg) rs144158112 0.00068
NM_173660.5(DOK7):c.202G>A (p.Gly68Ser) rs376509451 0.00063
NM_173660.5(DOK7):c.1225C>T (p.Arg409Cys) rs199606134 0.00036
NM_173660.5(DOK7):c.313C>T (p.Arg105Cys) rs115883468 0.00032
NM_173660.5(DOK7):c.32T>C (p.Val11Ala) rs375168516 0.00026
NM_173660.5(DOK7):c.668G>A (p.Gly223Glu) rs146895834 0.00024
NM_173660.5(DOK7):c.1279G>A (p.Gly427Ser) rs377555406 0.00022
NM_173660.5(DOK7):c.1007C>T (p.Ser336Leu) rs377757018 0.00019
NM_173660.5(DOK7):c.596T>G (p.Ile199Ser) rs148650015 0.00013
NM_173660.5(DOK7):c.1503C>A (p.Asn501Lys) rs750262940 0.00009
NM_173660.5(DOK7):c.838C>T (p.Arg280Trp) rs139573161 0.00009
NM_173660.5(DOK7):c.932T>C (p.Met311Thr) rs763124567 0.00009
NM_173660.5(DOK7):c.1373C>A (p.Ala458Asp) rs778440478 0.00008
NM_173660.5(DOK7):c.1388A>G (p.Glu463Gly) rs769974159 0.00008
NM_173660.5(DOK7):c.1457C>T (p.Pro486Leu) rs200015934 0.00007
NM_173660.5(DOK7):c.1133C>T (p.Ala378Val) rs371846002 0.00006
NM_173660.5(DOK7):c.922G>A (p.Gly308Arg) rs759691572 0.00006
NM_173660.5(DOK7):c.1219A>G (p.Thr407Ala) rs377326004 0.00005
NM_173660.5(DOK7):c.797C>T (p.Ser266Leu) rs763936252 0.00004
NM_173660.5(DOK7):c.880A>G (p.Thr294Ala) rs143821601 0.00004
NM_173660.5(DOK7):c.1000A>G (p.Ser334Gly) rs769643041 0.00003
NM_173660.5(DOK7):c.36G>T (p.Lys12Asn) rs368106071 0.00003
NM_173660.5(DOK7):c.994C>T (p.Arg332Cys) rs200394790 0.00003
NM_173660.5(DOK7):c.1180G>A (p.Glu394Lys) rs751691265 0.00002
NM_173660.5(DOK7):c.1226G>A (p.Arg409His) rs377528603 0.00002
NM_173660.5(DOK7):c.1214A>G (p.Tyr405Cys) rs746536929 0.00001
NM_173660.5(DOK7):c.1367T>G (p.Met456Arg) rs753317302 0.00001
NM_173660.5(DOK7):c.1448G>A (p.Gly483Glu) rs761289689 0.00001
NM_173660.5(DOK7):c.383C>T (p.Pro128Leu) rs376659660 0.00001
NM_173660.5(DOK7):c.1034A>T (p.His345Leu)
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs) rs606231128
NM_173660.5(DOK7):c.112A>T (p.Met38Leu)
NM_173660.5(DOK7):c.1258C>T (p.Pro420Ser) rs150497723
NM_173660.5(DOK7):c.1306G>A (p.Gly436Ser) rs201392182
NM_173660.5(DOK7):c.1321G>A (p.Gly441Arg) rs778266118
NM_173660.5(DOK7):c.1325G>A (p.Cys442Tyr)
NM_173660.5(DOK7):c.1430C>G (p.Ala477Gly)
NM_173660.5(DOK7):c.1445C>T (p.Ala482Val) rs767980190
NM_173660.5(DOK7):c.154C>T (p.Arg52Trp)
NM_173660.5(DOK7):c.160C>T (p.Arg54Cys)
NM_173660.5(DOK7):c.161G>A (p.Arg54His) rs201818140
NM_173660.5(DOK7):c.28del (p.Gln10fs) rs1560200925
NM_173660.5(DOK7):c.46G>T (p.Gly16Cys)
NM_173660.5(DOK7):c.583C>G (p.Leu195Val)
NM_173660.5(DOK7):c.594C>G (p.Cys198Trp)
NM_173660.5(DOK7):c.661C>G (p.Pro221Ala)
NM_173660.5(DOK7):c.674C>G (p.Ser225Trp)
NM_173660.5(DOK7):c.679G>C (p.Val227Leu)
NM_173660.5(DOK7):c.685G>A (p.Glu229Lys)
NM_173660.5(DOK7):c.779A>T (p.Asp260Val)
NM_173660.5(DOK7):c.823G>A (p.Val275Ile)
NM_173660.5(DOK7):c.869C>T (p.Ser290Leu)
NM_173660.5(DOK7):c.956C>A (p.Pro319His) rs376334067
NM_173660.5(DOK7):c.971C>G (p.Pro324Arg)

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