ClinVar Miner

List of variants in gene IFT43 reported as likely benign for autosomal recessive disease

Included ClinVar conditions (1198):
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_001102564.3(IFT43):c.136C>T (p.Leu46=) rs151137087 0.00052
NM_001102564.3(IFT43):c.383G>A (p.Arg128Gln) rs138684775 0.00045
NM_001102564.3(IFT43):c.369-18G>A rs199590828 0.00040
NM_001102564.3(IFT43):c.516C>T (p.Val172=) rs372647793 0.00033
NM_001102564.3(IFT43):c.201C>T (p.Ser67=) rs140127543 0.00026
NM_001102564.3(IFT43):c.445-15T>C rs745766333 0.00008
NM_001102564.3(IFT43):c.570G>A (p.Glu190=) rs201394224 0.00004
NM_001102564.3(IFT43):c.501C>A (p.Val167=) rs1248117843 0.00003
NM_001102564.3(IFT43):c.195T>A (p.Gly65=) rs766606545 0.00001
NM_001102564.3(IFT43):c.368+17A>T rs759453395 0.00001
NM_001102564.3(IFT43):c.147+18dup rs747593685
NM_001102564.3(IFT43):c.369-8del rs536027245

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