List of variants in gene combination IKBKB, LOC126860373 reported as uncertain significance for Severe combined immunodeficiency due to IKK2 deficiency

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001556.3(IKBKB):c.353G>A (p.Arg118Gln)	rs139712776	0.00003
NM_001556.3(IKBKB):c.368T>C (p.Leu123Pro)	rs200759910	0.00003
NM_001556.3(IKBKB):c.341G>A (p.Cys114Tyr)	rs1383844139	0.00001
NM_001556.3(IKBKB):c.380G>A (p.Ser127Asn)	rs1460784228	0.00001
NM_001556.3(IKBKB):c.382G>A (p.Asp128Asn)	rs1813080383	0.00001
NM_001556.3(IKBKB):c.329A>G (p.Gln110Arg)
NM_001556.3(IKBKB):c.357A>T (p.Glu119Asp)
NM_001556.3(IKBKB):c.359G>A (p.Gly120Asp)	rs758302357
NM_001556.3(IKBKB):c.366C>T (p.Ile122=)	rs2487343763
NM_001556.3(IKBKB):c.385A>G (p.Ile129Val)	rs1813081444

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