ClinVar Miner

List of variants in gene IFT122 reported as pathogenic for cranioectodermal dysplasia

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_052989.3(IFT122):c.565C>T (p.Arg189Ter) rs138329739 0.00009
NM_052989.3(IFT122):c.3031G>C (p.Ala1011Pro) rs199622112 0.00004
NM_052989.3(IFT122):c.349+5G>A rs376595844 0.00004
NM_052989.3(IFT122):c.965C>T (p.Ser322Phe) rs267607192 0.00003
NM_052989.3(IFT122):c.2668C>T (p.Arg890Ter) rs1039467525 0.00002
NM_052989.3(IFT122):c.1483G>A (p.Gly495Arg) rs397515568 0.00001
NC_000003.11:g.(?_129159174)_(129214470_?)del
NM_052989.3(IFT122):c.1141C>T (p.Gln381Ter)
NM_052989.3(IFT122):c.1198C>T (p.Arg400Ter)
NM_052989.3(IFT122):c.1432dup (p.Val478fs) rs2108311256
NM_052989.3(IFT122):c.1505T>G (p.Val502Gly) rs267607191
NM_052989.3(IFT122):c.1963del (p.Glu655fs)
NM_052989.3(IFT122):c.2285del (p.Lys762fs) rs2081339145
NM_052989.3(IFT122):c.2313C>A (p.Tyr771Ter)
NM_052989.3(IFT122):c.2375+2T>C rs786205567
NM_052989.3(IFT122):c.2705_2706del (p.Thr902fs)
NM_052989.3(IFT122):c.273-257C>A
NM_052989.3(IFT122):c.273-281_273-271del rs1559868433
NM_052989.3(IFT122):c.273-341dup
NM_052989.3(IFT122):c.273-374_273-369dup
NM_052989.3(IFT122):c.3013C>T (p.Gln1005Ter)
NM_052989.3(IFT122):c.3076_3079delinsG (p.Tyr1026_Ile1027delinsVal) rs2083230922
NM_052989.3(IFT122):c.3076_3080delinsGTA (p.Tyr1026fs)
NM_052989.3(IFT122):c.3180C>A (p.Cys1060Ter)
NM_052989.3(IFT122):c.3426_3430del (p.Ser1143fs) rs1299632365
NM_052989.3(IFT122):c.347_348del (p.Phe116fs)
NM_052989.3(IFT122):c.3553C>T (p.Arg1185Ter)
NM_052989.3(IFT122):c.3563del (p.Pro1188fs)
NM_052989.3(IFT122):c.356G>A (p.Trp119Ter)
NM_052989.3(IFT122):c.3575G>A (p.Trp1192Ter)
NM_052989.3(IFT122):c.3726A>G (p.Ter1242Trp) rs2108740086
NM_052989.3(IFT122):c.384del (p.Lys128fs)
NM_052989.3(IFT122):c.443_449dup (p.Met151fs)
NM_052989.3(IFT122):c.916_917del (p.Leu306fs)
NM_052989.3(IFT122):c.955del (p.Glu319fs) rs397515567
NM_052989.3(IFT122):c.982C>T (p.Gln328Ter)

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