ClinVar Miner

List of variants in gene DOCK8 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_203447.4(DOCK8):c.494C>T (p.Ser165Leu) rs146490788 0.00061
NM_203447.4(DOCK8):c.2749G>A (p.Glu917Lys) rs200899164 0.00030
NM_203447.4(DOCK8):c.5828C>T (p.Thr1943Ile) rs148368084 0.00025
NM_203447.4(DOCK8):c.2275G>A (p.Val759Met) rs148693111 0.00021
NM_203447.4(DOCK8):c.3220C>A (p.His1074Asn) rs150298985 0.00019
NM_203447.4(DOCK8):c.1623C>G (p.His541Gln) rs200201944 0.00015
NM_203447.4(DOCK8):c.2296G>A (p.Glu766Lys) rs267602235 0.00006
NM_203447.4(DOCK8):c.3323A>G (p.Asn1108Ser) rs151210108 0.00005
NM_203447.4(DOCK8):c.1433G>A (p.Arg478His) rs757667271 0.00001
NM_203447.4(DOCK8):c.148C>T (p.Leu50Phe) rs1045835531 0.00001
NM_203447.4(DOCK8):c.3044G>A (p.Arg1015His) rs200494857 0.00001
NM_203447.4(DOCK8):c.4895A>G (p.Lys1632Arg) rs760713559 0.00001
NM_203447.4(DOCK8):c.5491-4C>T rs780798376 0.00001
NM_203447.4(DOCK8):c.919C>G (p.Leu307Val) rs560133135 0.00001
GRCh37/hg19 9p24.3(chr9:328022-464219)x3
NM_203447.4(DOCK8):c.1090C>T (p.Pro364Ser) rs146777948
NM_203447.4(DOCK8):c.1422G>A (p.Gln474=) rs1563936093
NM_203447.4(DOCK8):c.1516G>A (p.Gly506Ser)
NM_203447.4(DOCK8):c.1637A>G (p.Glu546Gly) rs2051518779
NM_203447.4(DOCK8):c.1798-4A>G rs774596616
NM_203447.4(DOCK8):c.2992G>T (p.Val998Leu) rs751201571
NM_203447.4(DOCK8):c.4339-3C>G rs954072908
NM_203447.4(DOCK8):c.4387_4395del (p.Arg1463_Leu1465del) rs1554704402
NM_203447.4(DOCK8):c.4504G>C (p.Glu1502Gln)
NM_203447.4(DOCK8):c.5653G>A (p.Glu1885Lys) rs1564078658
NM_203447.4(DOCK8):c.5858AGA[2] (p.Lys1955del) rs1587092842
NM_203447.4(DOCK8):c.5864A>C (p.Lys1955Thr) rs2131866624
NM_203447.4(DOCK8):c.6187C>T (p.Arg2063Trp) rs754936136

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