ClinVar Miner

List of variants in gene IFT122 reported as likely benign for abdominal and pelvic region disorder

Included ClinVar conditions (962):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP
NM_052989.3(IFT122):c.1026C>T (p.Asp342=) rs79187669
NM_052989.3(IFT122):c.109-15T>C rs114298924
NM_052989.3(IFT122):c.1503C>T (p.Phe501=) rs113871672
NM_052989.3(IFT122):c.1533G>A (p.Leu511=) rs183614690
NM_052989.3(IFT122):c.1713G>T (p.Ser571=) rs150174636
NM_052989.3(IFT122):c.1943A>C (p.Glu648Ala) rs144397126
NM_052989.3(IFT122):c.1993-7G>A rs2285354
NM_052989.3(IFT122):c.2060G>A (p.Arg687Gln) rs61740161
NM_052989.3(IFT122):c.2181C>T (p.Thr727=) rs545131069
NM_052989.3(IFT122):c.2294A>C (p.Lys765Thr) rs146026277
NM_052989.3(IFT122):c.2415C>T (p.Arg805=) rs61744218
NM_052989.3(IFT122):c.2433C>T (p.Cys811=) rs141626835
NM_052989.3(IFT122):c.2628T>C (p.Asp876=) rs750912015
NM_052989.3(IFT122):c.2749T>G (p.Tyr917Asp) rs146818399
NM_052989.3(IFT122):c.3129C>T (p.Arg1043=) rs76881473
NM_052989.3(IFT122):c.3432C>T (p.Ile1144=) rs149884307
NM_052989.3(IFT122):c.3533G>A (p.Arg1178His) rs149029829
NM_052989.3(IFT122):c.531G>A (p.Ser177=) rs150496357
NM_052989.3(IFT122):c.563+7T>C rs371311619
NM_052989.3(IFT122):c.617T>C (p.Ile206Thr) rs59912693

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