List of variants in gene OTULIN studied for autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_138348.6(OTULIN):c.230-15T>A	rs201861710	0.00653
NM_138348.6(OTULIN):c.996C>G (p.Leu332=)	rs36111454	0.00517
NM_138348.6(OTULIN):c.1052G>A (p.Ser351Asn)	rs201549255	0.00036
NM_138348.6(OTULIN):c.17T>C (p.Met6Thr)	rs745608502	0.00001
NM_138348.6(OTULIN):c.22C>T (p.Gln8Ter)	rs1735786455
NM_138348.6(OTULIN):c.258G>A (p.Met86Ile)	rs2478170124
NM_138348.6(OTULIN):c.349T>C (p.Phe117Leu)	rs2478185243
NM_138348.6(OTULIN):c.469-10G>C	rs189738566
NM_138348.6(OTULIN):c.500G>C (p.Trp167Ser)	rs2478212284
NM_138348.6(OTULIN):c.517del (p.Gly174fs)	rs886037886
NM_138348.6(OTULIN):c.553G>T (p.Val185Phe)	rs867617260
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)	rs2478223717
NM_138348.6(OTULIN):c.864+2T>C	rs2478223888

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