List of variants in gene IL1RN reported as pathogenic for connective tissue 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_173842.3(IL1RN):c.229G>T (p.Glu77Ter)	rs121913161	0.00001
NC_000002.12:g.(?_113116893)_(113135016_?)del
NC_000002.12:g.112960554_113135775del
NM_173841.3(IL1RN):c.25G>T (p.Glu9Ter)
NM_173841.3(IL1RN):c.52G>T (p.Glu18Ter)
NM_173842.3(IL1RN):c.133C>T (p.Gln45Ter)
NM_173842.3(IL1RN):c.156_157del (p.Asn52fs)	rs672601268
NM_173842.3(IL1RN):c.160C>T (p.Gln54Ter)	rs121913162
NM_173842.3(IL1RN):c.213_227del (p.Asp72_Ile76del)	rs1340890598

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