ClinVar Miner

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

Included ClinVar conditions (956):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_052985.4(IFT122):c.1108del (p.Glu370fs) rs397515567
NM_052985.4(IFT122):c.1118C>T (p.Ser373Phe) rs267607192
NM_052985.4(IFT122):c.1658T>G (p.Val553Gly) rs267607191
NM_052985.4(IFT122):c.21G>C (p.Trp7Cys) rs267607193
NM_052985.4(IFT122):c.502+5G>A rs376595844
NM_052985.4(IFT122):c.718C>T (p.Arg240Ter) rs138329739
NM_052989.3(IFT122):c.1483G>A (p.Gly495Arg) rs397515568
NM_052989.3(IFT122):c.2375+2T>C rs786205567

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