ClinVar Miner

Variants in gene DOCK8 with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 15
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HGVS dbSNP gnomAD frequency
NM_203447.4(DOCK8):c.4019A>G (p.Tyr1340Cys) rs116920018 0.00276
NM_203447.4(DOCK8):c.380G>A (p.Arg127His) rs150742426 0.00196
NM_203447.4(DOCK8):c.3460C>T (p.Arg1154Cys) rs34390308 0.00170
NM_203447.4(DOCK8):c.452G>A (p.Arg151Gln) rs149918318 0.00136
NM_203447.4(DOCK8):c.3988C>G (p.Leu1330Val) rs148081681 0.00076
NM_203447.4(DOCK8):c.3263C>T (p.Thr1088Met) rs149065013 0.00067
NM_203447.4(DOCK8):c.3023G>A (p.Arg1008Gln) rs145844320 0.00064
NM_203447.4(DOCK8):c.494C>T (p.Ser165Leu) rs146490788 0.00061
NM_203447.4(DOCK8):c.3312G>C (p.Glu1104Asp) rs138810908 0.00054
NM_203447.4(DOCK8):c.3058A>G (p.Ile1020Val) rs151094543 0.00046
NM_203447.4(DOCK8):c.2779A>G (p.Ile927Val) rs759239515 0.00006
NM_203447.4(DOCK8):c.4346C>T (p.Ser1449Leu) rs370123223 0.00006
NM_203447.4(DOCK8):c.1656A>G (p.Val552=) rs150595667 0.00003
NM_203447.4(DOCK8):c.2017A>T (p.Ile673Phe) rs372858877
NM_203447.4(DOCK8):c.2440+13_2440+22del rs769837178

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