ClinVar Miner

List of variants studied for Immunodeficiency, common variable, 12 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_003998.4(NFKB1):c.1676_1679delinsCTTAC (p.Leu559fs)
NM_003998.4(NFKB1):c.730+4A>G	rs869320688
NM_003998.4(NFKB1):c.731A>G (p.Lys244Arg)	rs2149187183
NM_003998.4(NFKB1):c.904dup (p.Ser302fs)	rs773694113

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