ClinVar Miner

List of variants in gene IFT172 reported as benign 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.2116-31T>C rs780107 0.47348
NM_015662.3(IFT172):c.1829+12G>A rs1647276 0.47329
NM_015662.3(IFT172):c.337-12C>T rs79529534 0.02365
NM_015662.3(IFT172):c.571-15C>G rs75809198 0.01015
NM_015662.3(IFT172):c.1338T>C (p.Asn446=) rs61743327 0.00780
NM_015662.3(IFT172):c.2858G>A (p.Arg953His) rs704793 0.00606
NM_015662.3(IFT172):c.3401G>T (p.Arg1134Leu) rs148624326 0.00526
NM_015662.3(IFT172):c.4272G>A (p.Gln1424=) rs147850047 0.00526
NM_015662.3(IFT172):c.4428+5C>G rs114235369 0.00521
NM_015662.3(IFT172):c.4659+16T>C rs143060452 0.00514
NM_015662.3(IFT172):c.1685C>G (p.Thr562Ser) rs61743977 0.00470
NM_015662.3(IFT172):c.4540-6C>T rs146140583 0.00361
NM_015662.3(IFT172):c.3357C>T (p.His1119=) rs76787560 0.00238
NM_015662.3(IFT172):c.2443-19A>G rs199907803 0.00101
NM_015662.3(IFT172):c.402+8A>C rs184565714 0.00083
NM_015662.3(IFT172):c.1433A>T (p.Asn478Ile) rs143491198 0.00061
NM_015662.3(IFT172):c.3474C>T (p.Phe1158=) rs534566990 0.00035
NM_015662.3(IFT172):c.915A>G (p.Thr305=) rs180855666 0.00006
NM_015662.3(IFT172):c.4628C>T (p.Thr1543Met) rs571220836 0.00004
NM_015662.3(IFT172):c.1459C>T (p.Arg487Cys)
NM_015662.3(IFT172):c.1525-17G>A rs187471043
NM_015662.3(IFT172):c.1525-6C>T
NM_015662.3(IFT172):c.184-14_184-11del
NM_015662.3(IFT172):c.184-23dup rs747166252
NM_015662.3(IFT172):c.2023-5dup
NM_015662.3(IFT172):c.2877+48T>G rs780106

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