ClinVar Miner

List of variants in gene DOCK2 reported as pathogenic

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_004946.3(DOCK2):c.3310C>T (p.Arg1104Trp) rs780318765 0.00001
NM_004946.3(DOCK2):c.3970C>T (p.Gln1324Ter) rs762909359 0.00001
NM_004946.3(DOCK2):c.1348_1349del (p.Met450fs) rs1761023588
NM_004946.3(DOCK2):c.149dup (p.His52fs) rs2113279864
NM_004946.3(DOCK2):c.1773dup (p.Leu592fs)
NM_004946.3(DOCK2):c.1847del (p.Gly616fs)
NM_004946.3(DOCK2):c.2229_2230dup (p.Phe744fs) rs2113559002
NM_004946.3(DOCK2):c.2253G>T (p.Arg751Ser) rs1581090174
NM_004946.3(DOCK2):c.316dup (p.Tyr106fs) rs2113291833
NM_004946.3(DOCK2):c.3633C>G (p.Tyr1211Ter) rs1756328793
NM_004946.3(DOCK2):c.3724_3725dup (p.Leu1244fs) rs2113843664
NM_004946.3(DOCK2):c.471-2A>G rs2113355272
NM_004946.3(DOCK2):c.4786C>T (p.Arg1596Ter) rs2113874830
NM_004946.3(DOCK2):c.4858C>T (p.Arg1620Ter) rs142830212
NM_004946.3(DOCK2):c.650C>A (p.Ser217Ter)

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