List of variants in gene OTULIN 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: 8

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HGVS	dbSNP	gnomAD frequency
NM_138348.6(OTULIN):c.22C>T (p.Gln8Ter)	rs1735786455
NM_138348.6(OTULIN):c.258G>A (p.Met86Ile)
NM_138348.6(OTULIN):c.500G>C (p.Trp167Ser)
NM_138348.6(OTULIN):c.517del (p.Gly174fs)	rs886037886
NM_138348.6(OTULIN):c.731A>G (p.Tyr244Cys)	rs886037887
NM_138348.6(OTULIN):c.815T>C (p.Leu272Pro)	rs886037885
NM_138348.6(OTULIN):c.841G>A (p.Gly281Arg)
NM_138348.6(OTULIN):c.864+2T>C

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