List of variants in gene combination LOC106029312, NCF1 reported as pathogenic for immune system disorder

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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: 9

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HGVS	dbSNP	gnomAD frequency
NM_000265.7(NCF1):c.579G>A (p.Trp193Ter)	rs145360423	0.00054
NM_000265.7(NCF1):c.124C>T (p.Arg42Trp)	rs782800778	0.00007
NM_000265.7(NCF1):c.574G>A (p.Gly192Ser)	rs119103273	0.00003
NM_000265.7(NCF1):c.125G>A (p.Arg42Gln)	rs119103270	0.00002
NM_000265.7(NCF1):c.271C>T (p.Gln91Ter)	rs119103271
NM_000265.7(NCF1):c.333T>A (p.Cys111Ter)	rs119103272
NM_000265.7(NCF1):c.502del (p.Glu168fs)	rs1563003964
NM_000265.7(NCF1):c.75_76del (p.Tyr26fs)	rs4029402
NM_000265.7(NCF1):c.811del (p.Val271fs)	rs1307080411

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