ClinVar Miner

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

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 19
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HGVS dbSNP gnomAD frequency
NM_203447.4(DOCK8):c.5908G>C (p.Ala1970Pro) rs34908836 0.07052
NM_203447.4(DOCK8):c.3230G>A (p.Ser1077Asn) rs34627722 0.05757
NM_203447.4(DOCK8):c.709G>A (p.Glu237Lys) rs11789099 0.02275
NM_203447.4(DOCK8):c.3840+3A>G rs16938572 0.00865
NM_203447.4(DOCK8):c.3573C>T (p.Ser1191=) rs13285348 0.00471
NM_203447.4(DOCK8):c.3701-17C>T rs376111035 0.00409
NM_203447.4(DOCK8):c.1017G>A (p.Pro339=) rs35746964 0.00395
NM_203447.4(DOCK8):c.2310G>A (p.Glu770=) rs116175117 0.00217
NM_203447.4(DOCK8):c.1582C>A (p.Leu528Met) rs146250176 0.00213
NM_203447.4(DOCK8):c.528+7C>A rs114833839 0.00207
NM_203447.4(DOCK8):c.4024-4C>T rs111306749 0.00196
NM_203447.4(DOCK8):c.3606T>C (p.Cys1202=) rs143919622 0.00175
NM_203447.4(DOCK8):c.3460C>T (p.Arg1154Cys) rs34390308 0.00170
NM_203447.4(DOCK8):c.5010G>A (p.Ala1670=) rs142208336 0.00128
NM_203447.4(DOCK8):c.5962-8C>T rs749575443 0.00061
NM_203447.4(DOCK8):c.3058A>G (p.Ile1020Val) rs151094543 0.00046
NM_203447.4(DOCK8):c.3079G>A (p.Val1027Ile) rs199782622 0.00001
NM_203447.4(DOCK8):c.3234+15del rs375864618
NM_203447.4(DOCK8):c.404+16del rs727505303

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