ClinVar Miner

List of variants in gene IFT122 reported as uncertain significance for abdominal and pelvic region disorder

Included ClinVar conditions (916):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 54
Download table as spreadsheet
HGVS dbSNP
NM_052985.4(IFT122):c.*16C>T rs763993447
NM_052985.4(IFT122):c.-3G>A rs367704478
NM_052985.4(IFT122):c.1030G>A (p.Glu344Lys)
NM_052985.4(IFT122):c.1091G>A (p.Arg364Gln) rs376018883
NM_052985.4(IFT122):c.1162-14C>T rs202155515
NM_052985.4(IFT122):c.1179C>T (p.Asp393=) rs79187669
NM_052985.4(IFT122):c.1256G>A (p.Ser419Asn) rs150550701
NM_052985.4(IFT122):c.1303C>T (p.Arg435Trp) rs139079256
NM_052985.4(IFT122):c.132C>G (p.Thr44=) rs371772807
NM_052985.4(IFT122):c.1392G>A (p.Glu464=) rs111717774
NM_052985.4(IFT122):c.1405G>A (p.Asp469Asn) rs148626512
NM_052985.4(IFT122):c.1447A>G (p.Lys483Glu) rs781181264
NM_052985.4(IFT122):c.1636G>A (p.Gly546Arg) rs397515568
NM_052985.4(IFT122):c.1686G>A (p.Leu562=) rs183614690
NM_052985.4(IFT122):c.1706G>A (p.Arg569His) rs138223055
NM_052985.4(IFT122):c.1911C>G (p.His637Gln) rs141889207
NM_052985.4(IFT122):c.1953C>T (p.Ser651=) rs886057965
NM_052985.4(IFT122):c.199C>A (p.Arg67Ser) rs181971625
NM_052985.4(IFT122):c.2004+5C>T
NM_052985.4(IFT122):c.2037A>T (p.Lys679Asn) rs777051654
NM_052985.4(IFT122):c.2146-8C>T rs531091599
NM_052985.4(IFT122):c.214T>G (p.Ser72Ala) rs144140226
NM_052985.4(IFT122):c.2171G>A (p.Arg724Gln) rs140911243
NM_052985.4(IFT122):c.2208G>T (p.Lys736Asn) rs779236550
NM_052985.4(IFT122):c.228C>T (p.Ser76=) rs772835552
NM_052985.4(IFT122):c.2334C>T (p.Thr778=) rs545131069
NM_052985.4(IFT122):c.2455G>A (p.Val819Met)
NM_052985.4(IFT122):c.2457G>A (p.Val819=) rs886057966
NM_052985.4(IFT122):c.2586C>T (p.Cys862=) rs141626835
NM_052985.4(IFT122):c.2730G>A (p.Glu910=) rs201077232
NM_052985.4(IFT122):c.2753C>T (p.Pro918Leu) rs147499719
NM_052985.4(IFT122):c.2782C>T (p.Arg928Cys) rs773080594
NM_052985.4(IFT122):c.2834C>T (p.Ala945Val) rs376549217
NM_052985.4(IFT122):c.2874G>A (p.Ala958=) rs371570973
NM_052985.4(IFT122):c.2993G>A (p.Arg998His) rs760810819
NM_052985.4(IFT122):c.3281G>A (p.Arg1094His) rs576743578
NM_052985.4(IFT122):c.3284C>T (p.Ala1095Val) rs147341636
NM_052985.4(IFT122):c.3307-9G>A rs759975764
NM_052985.4(IFT122):c.3385C>T (p.Arg1129Cys) rs771499492
NM_052985.4(IFT122):c.3405C>T (p.Ser1135=) rs775568842
NM_052985.4(IFT122):c.3416A>G (p.Tyr1139Cys) rs774343448
NM_052985.4(IFT122):c.3421G>A (p.Val1141Met) rs147517019
NM_052985.4(IFT122):c.3456G>T (p.Gly1152=) rs111668739
NM_052985.4(IFT122):c.3585C>T (p.Ile1195=) rs149884307
NM_052985.4(IFT122):c.3640T>A (p.Phe1214Ile) rs200606803
NM_052985.4(IFT122):c.3686G>A (p.Arg1229His) rs149029829
NM_052985.4(IFT122):c.3723G>T (p.Leu1241=) rs146778076
NM_052985.4(IFT122):c.3789+3A>G rs753825998
NM_052985.4(IFT122):c.474A>G (p.Gln158=) rs138793724
NM_052985.4(IFT122):c.628C>T (p.Arg210Trp) rs140547512
NM_052985.4(IFT122):c.705del (p.Cys234_Trp235insTer) rs781766922
NM_052985.4(IFT122):c.718C>T (p.Arg240Ter)
NM_052985.4(IFT122):c.771T>G (p.Ile257Met)
NM_052985.4(IFT122):c.982C>T (p.Arg328Trp) rs61744448

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.