ClinVar Miner

List of variants studied for Combined immunodeficiency due to DOCK8 deficiency by Fulgent Genetics, Fulgent Genetics

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_203447.4(DOCK8):c.3840+3A>G rs16938572 0.00865
NM_203447.4(DOCK8):c.3312G>C (p.Glu1104Asp) rs138810908 0.00054
NM_203447.4(DOCK8):c.54-1G>T rs192864327 0.00036
NM_203447.4(DOCK8):c.5207C>T (p.Ala1736Val) rs139990627 0.00026
NM_203447.4(DOCK8):c.223C>G (p.Leu75Val) rs368133450 0.00023
NM_203447.4(DOCK8):c.1623C>G (p.His541Gln) rs200201944 0.00015
NM_203447.4(DOCK8):c.2594T>C (p.Val865Ala) rs373018701 0.00010
NM_203447.4(DOCK8):c.3234+2T>C rs756871628 0.00010
NM_203447.4(DOCK8):c.476C>T (p.Pro159Leu) rs537605467 0.00010
NM_203447.4(DOCK8):c.3031C>T (p.Arg1011Cys) rs535305490 0.00009
NM_203447.4(DOCK8):c.1357G>T (p.Glu453Ter)
NM_203447.4(DOCK8):c.1369G>T (p.Val457Phe)
NM_203447.4(DOCK8):c.1529_1530del (p.Leu510fs)
NM_203447.4(DOCK8):c.1945_1951del (p.Phe649fs)
NM_203447.4(DOCK8):c.1963C>T (p.Gln655Ter) rs1287635563
NM_203447.4(DOCK8):c.2032C>T (p.Arg678Cys)
NM_203447.4(DOCK8):c.2T>C (p.Met1Thr) rs760902978
NM_203447.4(DOCK8):c.323C>T (p.Pro108Leu)
NM_203447.4(DOCK8):c.3530+1G>A rs1564025732
NM_203447.4(DOCK8):c.529-2A>G
NM_203447.4(DOCK8):c.5386C>T (p.Arg1796Ter) rs775544616
NM_203447.4(DOCK8):c.5564del (p.Lys1855fs)
NM_203447.4(DOCK8):c.6022C>T (p.Arg2008Ter)
NM_203447.4(DOCK8):c.653G>A (p.Ser218Asn)
NM_203447.4(DOCK8):c.742-15T>G rs111627162

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