ClinVar Miner

List of variants in gene IL11RA reported as pathogenic for craniosynostosis

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001142784.3(IL11RA):c.886C>T (p.Arg296Trp) rs387906784 0.00013
NM_001142784.3(IL11RA):c.475C>T (p.Gln159Ter) rs387906787 0.00006
NM_001142784.3(IL11RA):c.662C>G (p.Pro221Arg) rs387906785 0.00001
NM_001142784.3(IL11RA):c.734C>G (p.Ser245Cys) rs387906786
NM_001142784.3(IL11RA):c.907ACCTGGAGC[3] (p.Ser308_Pro309insThrTrpSer)
NM_001142784.3(IL11RA):c.919T>C (p.Trp307Arg)

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