List of variants reported as uncertain significance for Combined immunodeficiency due to DOCK8 deficiency by Revvity Omics, Revvity

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_203447.4(DOCK8):c.1193G>A (p.Arg398Gln)	rs147287319	0.00040
NM_203447.4(DOCK8):c.1588G>A (p.Val530Met)	rs373187839	0.00013
NM_203447.4(DOCK8):c.4904A>G (p.Gln1635Arg)	rs200869192	0.00007
NM_203447.4(DOCK8):c.4346C>T (p.Ser1449Leu)	rs370123223	0.00006
NM_203447.4(DOCK8):c.2350C>T (p.Arg784Cys)	rs1251716138	0.00002
NM_203447.4(DOCK8):c.1787A>G (p.Asn596Ser)	rs367602254	0.00001
NM_203447.4(DOCK8):c.3044G>A (p.Arg1015His)	rs200494857	0.00001
NM_203447.4(DOCK8):c.*1031G>A	rs149002313
NM_203447.4(DOCK8):c.1964A>G (p.Gln655Arg)	rs750213861
NM_203447.4(DOCK8):c.2017A>T (p.Ile673Phe)	rs372858877
NM_203447.4(DOCK8):c.4268C>G (p.Ala1423Gly)	rs750589703
NM_203447.4(DOCK8):c.4474-26C>T
NM_203447.4(DOCK8):c.5205C>T (p.Ala1735=)	rs150682688
NM_203447.4(DOCK8):c.6147C>G (p.Asn2049Lys)

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