ClinVar Miner

List of variants in gene DOCK2 reported by Genome Diagnostics Laboratory, University Medical Center Utrecht

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_004946.3(DOCK2):c.4295+9C>T rs115134653 0.00358
NM_004946.3(DOCK2):c.90G>C (p.Gln30His) rs141894939 0.00226
NM_004946.3(DOCK2):c.4201G>T (p.Ala1401Ser) rs143100569 0.00161
NM_004946.3(DOCK2):c.1896G>A (p.Glu632=) rs771194180 0.00023
NM_004946.3(DOCK2):c.5262C>T (p.Ala1754=) rs757478455 0.00001

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