ClinVar Miner

List of variants in gene combination DOCK8, LOC126860552 reported as uncertain significance for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_203447.4(DOCK8):c.223C>G (p.Leu75Val) rs368133450 0.00023
NM_203447.4(DOCK8):c.180G>T (p.Glu60Asp) rs370107163 0.00021
NM_203447.4(DOCK8):c.314C>G (p.Pro105Arg) rs201472678 0.00012
NM_203447.4(DOCK8):c.277G>T (p.Val93Leu) rs375686155 0.00003
NM_203447.4(DOCK8):c.250G>A (p.Gly84Arg) rs1318020471 0.00002
NM_203447.4(DOCK8):c.277G>A (p.Val93Met) rs375686155 0.00002
NM_203447.4(DOCK8):c.313C>G (p.Pro105Ala) rs756344239 0.00002
NM_203447.4(DOCK8):c.167A>G (p.Tyr56Cys) rs373301364 0.00001
NM_203447.4(DOCK8):c.236T>C (p.Leu79Pro) rs754852811 0.00001
NM_203447.4(DOCK8):c.317C>G (p.Ser106Cys) rs896673386 0.00001
NM_203447.4(DOCK8):c.157-8C>A
NM_203447.4(DOCK8):c.158C>G (p.Pro53Arg) rs777781052
NM_203447.4(DOCK8):c.179A>T (p.Glu60Val)
NM_203447.4(DOCK8):c.185T>G (p.Val62Gly)
NM_203447.4(DOCK8):c.196G>A (p.Gly66Arg)
NM_203447.4(DOCK8):c.202C>A (p.Leu68Met)
NM_203447.4(DOCK8):c.218A>G (p.Asn73Ser) rs886063849
NM_203447.4(DOCK8):c.221G>T (p.Ser74Ile)
NM_203447.4(DOCK8):c.242A>G (p.Gln81Arg) rs1586600892
NM_203447.4(DOCK8):c.247C>T (p.Leu83Phe)
NM_203447.4(DOCK8):c.260C>T (p.Thr87Ile)
NM_203447.4(DOCK8):c.265G>A (p.Asp89Asn) rs2048832030
NM_203447.4(DOCK8):c.265GAC[1] (p.Asp90del) rs776468911
NM_203447.4(DOCK8):c.268G>A (p.Asp90Asn) rs113165814
NM_203447.4(DOCK8):c.278T>C (p.Val93Ala)
NM_203447.4(DOCK8):c.280G>C (p.Val94Leu) rs1554655875
NM_203447.4(DOCK8):c.287C>T (p.Thr96Met) rs1442708191
NM_203447.4(DOCK8):c.289C>G (p.Pro97Ala)
NM_203447.4(DOCK8):c.290C>T (p.Pro97Leu) rs760271664
NM_203447.4(DOCK8):c.295G>A (p.Glu99Lys) rs547012088
NM_203447.4(DOCK8):c.296A>G (p.Glu99Gly)
NM_203447.4(DOCK8):c.298T>C (p.Cys100Arg)
NM_203447.4(DOCK8):c.300T>C (p.Cys100=)
NM_203447.4(DOCK8):c.303G>A (p.Arg101=)
NM_203447.4(DOCK8):c.305C>G (p.Thr102Ser) rs375895643
NM_203447.4(DOCK8):c.314C>A (p.Pro105His)
NM_203447.4(DOCK8):c.323C>T (p.Pro108Leu)
NM_203447.4(DOCK8):c.332+4_332+7del rs759319822

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