ClinVar Miner

List of variants studied for Combined immunodeficiency due to DOCK8 deficiency by Mendelics

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_203447.4(DOCK8):c.1865A>G (p.Asn622Ser)	rs766901544	0.00006
NM_203447.4(DOCK8):c.3209A>G (p.Asn1070Ser)	rs368569393	0.00003
NM_203447.4(DOCK8):c.1680-2428G>T	rs1586810354
NM_203447.4(DOCK8):c.2007+2T>G	rs2131215770

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