ClinVar Miner

List of variants in gene IRF6 reported as likely benign for congenital limb malformation

Included ClinVar conditions (335):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_006147.4(IRF6):c.*2394dup rs144945364 0.00999
NM_006147.4(IRF6):c.668-4G>T rs376679285 0.00010
NM_006147.4(IRF6):c.711C>T (p.Tyr237=) rs201940391 0.00009
NM_006147.4(IRF6):c.380-4G>A rs373381488 0.00008
NM_006147.4(IRF6):c.888C>T (p.Asp296=) rs748882482 0.00003
NM_006147.4(IRF6):c.1059C>T (p.Ser353=)
NM_006147.4(IRF6):c.1061-7T>C
NM_006147.4(IRF6):c.1239C>A (p.Ser413=)
NM_006147.4(IRF6):c.1259G>A (p.Arg420His)
NM_006147.4(IRF6):c.1275C>T (p.Thr425=)
NM_006147.4(IRF6):c.1315C>T (p.Leu439=) rs1286939391
NM_006147.4(IRF6):c.1398C>T (p.Pro466=)
NM_006147.4(IRF6):c.294T>C (p.Asp98=)
NM_006147.4(IRF6):c.508+15T>G
NM_006147.4(IRF6):c.522G>A (p.Ala174=)
NM_006147.4(IRF6):c.777G>A (p.Met259Ile)

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