ClinVar Miner

List of variants in gene IFT172 reported as likely pathogenic for Jeune syndrome

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_015662.3(IFT172):c.1445T>G (p.Val482Gly) rs61740250 0.00006
NM_015662.3(IFT172):c.112C>T (p.Arg38Ter) rs139021548 0.00004
NM_015662.3(IFT172):c.402+2T>G rs774548930 0.00002
NM_015662.3(IFT172):c.1525-1G>A rs370540673 0.00001
NM_015662.3(IFT172):c.2365C>T (p.Arg789Ter) rs202024173 0.00001
NM_015662.3(IFT172):c.4519C>T (p.Arg1507Ter) rs150246251 0.00001
NM_015662.3(IFT172):c.4630C>T (p.Arg1544Cys) rs587777079 0.00001
NM_015662.3(IFT172):c.1326-1G>A
NM_015662.3(IFT172):c.1411+2T>C
NM_015662.3(IFT172):c.1524+2_1524+3del rs769575051
NM_015662.3(IFT172):c.1693-1G>A
NM_015662.3(IFT172):c.184-2A>C rs2148559396
NM_015662.3(IFT172):c.2116-2A>G
NM_015662.3(IFT172):c.2521+1G>A
NM_015662.3(IFT172):c.2521+1G>T rs2148505406
NM_015662.3(IFT172):c.3111+1G>T
NM_015662.3(IFT172):c.336+2T>G
NM_015662.3(IFT172):c.3952-1G>C rs2148479160
NM_015662.3(IFT172):c.402+2T>C
NM_015662.3(IFT172):c.4051-1G>A rs1665487115
NM_015662.3(IFT172):c.4311+1G>A rs2148477195
NM_015662.3(IFT172):c.4429-178_4436del
NM_015662.3(IFT172):c.482+1G>A
NM_015662.3(IFT172):c.786-2A>G
NM_015662.3(IFT172):c.786-2A>T
NM_015662.3(IFT172):c.910-2A>G rs2148546998

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