ClinVar Miner

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

Included ClinVar conditions (336):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_006147.4(IRF6):c.459G>T (p.Ser153=) rs2013162 0.35925
NM_006147.4(IRF6):c.175-5C>G rs7552506 0.32118
NM_006147.4(IRF6):c.-75-4A>G rs2235377 0.03786
NM_006147.4(IRF6):c.820G>A (p.Val274Ile) rs2235371 0.03768
NM_006147.4(IRF6):c.1153T>C (p.Leu385=) rs61099902 0.02121
NM_006147.4(IRF6):c.759T>C (p.Tyr253=) rs41303263 0.00237
NM_006147.4(IRF6):c.9C>T (p.Leu3=) rs78599614 0.00009
NM_006147.4(IRF6):c.351T>G (p.Pro117=) rs550521875 0.00003
NM_006147.3(IRF6):c.-313T>A rs34743335
NM_006147.4(IRF6):c.390G>A (p.Gly130=) rs34907424
NM_006147.4(IRF6):c.390G>T (p.Gly130=) rs34907424
NM_006147.4(IRF6):c.667+27C>G rs2235375

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