ClinVar Miner

List of variants in gene IFT43 studied for craniosynostosis

Included ClinVar conditions (87):
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Gene type:
ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_001102564.3(IFT43):c.54+15G>T rs372505367 0.00105
NM_001102564.3(IFT43):c.136C>T (p.Leu46=) rs151137087 0.00052
NM_001102564.3(IFT43):c.486G>A (p.Ala162=) rs143729954 0.00049
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.583C>T (p.Gln195Ter) rs150616080 0.00025
NM_001102564.3(IFT43):c.16G>C (p.Asp6His) rs201966792 0.00019
NM_001102564.3(IFT43):c.444+5G>A rs377078385 0.00017
NM_001102564.3(IFT43):c.395A>T (p.Tyr132Phe) rs201692401 0.00016
NM_001102564.3(IFT43):c.92C>T (p.Ala31Val) rs147933112 0.00010
NM_001102564.3(IFT43):c.445-15T>C rs745766333 0.00008
NM_001102564.3(IFT43):c.459C>A (p.Asp153Glu) rs778799892 0.00006
NM_001102564.3(IFT43):c.517G>A (p.Gly173Ser) rs554856028 0.00006
NM_001102564.3(IFT43):c.55-17T>C rs200685248 0.00006
NM_001102564.3(IFT43):c.570G>A (p.Glu190=) rs201394224 0.00004
NM_001102564.3(IFT43):c.587C>T (p.Thr196Met) rs759241440 0.00004
NM_001102564.3(IFT43):c.501C>A (p.Val167=) rs1248117843 0.00003
NM_001102564.3(IFT43):c.296-5681A>G rs755977535 0.00002
NM_001102564.3(IFT43):c.398G>A (p.Arg133His) rs755396441 0.00002
NM_001102564.3(IFT43):c.502C>T (p.Arg168Trp) rs1483926431 0.00002
NM_001102564.3(IFT43):c.176G>A (p.Arg59Gln) rs756786140 0.00001
NM_001102564.3(IFT43):c.195T>A (p.Gly65=) rs766606545 0.00001
NM_001102564.3(IFT43):c.214_215+2del rs777112610 0.00001
NM_001102564.3(IFT43):c.31C>T (p.Leu11Phe) rs756188997 0.00001
NM_001102564.3(IFT43):c.34C>T (p.Arg12Cys) rs749145719 0.00001
NM_001102564.3(IFT43):c.361C>T (p.Pro121Ser) rs1359937590 0.00001
NM_001102564.3(IFT43):c.368+17A>T rs759453395 0.00001
NM_001102564.3(IFT43):c.469C>A (p.Leu157Ile) rs1414874776 0.00001
NM_001102564.3(IFT43):c.485C>T (p.Ala162Val) rs371422510 0.00001
NM_001102564.3(IFT43):c.498A>T (p.Glu166Asp) rs141866033 0.00001
NM_001102564.3(IFT43):c.540C>A (p.Phe180Leu) rs894168247 0.00001
NM_001102564.3(IFT43):c.605C>T (p.Ala202Val) rs764790125 0.00001
NM_001102564.3(IFT43):c.147+18dup rs747593685
NM_001102564.3(IFT43):c.1A>G (p.Met1Val) rs387907107
NM_001102564.3(IFT43):c.322G>A (p.Glu108Lys) rs776120367
NM_001102564.3(IFT43):c.369-8del rs536027245
NM_001102564.3(IFT43):c.91G>C (p.Ala31Pro) rs1330242492

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