ClinVar Miner

List of variants in gene IFT140 reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (913):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_014714.3(IFT140):c.3454-488_4182+2588dup
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu) rs199826737
NM_014714.4(IFT140):c.1990G>A (p.Glu664Lys) rs387907192
NM_014714.4(IFT140):c.2177C>T (p.Pro726Leu) rs1417500285
NM_014714.4(IFT140):c.2278C>T (p.Arg760Ter) rs1555486629
NM_014714.4(IFT140):c.2399+1G>T rs376586707
NM_014714.4(IFT140):c.2577+25G>A rs1423102192
NM_014714.4(IFT140):c.3141+1G>T rs764770536
NM_014714.4(IFT140):c.3454-1003_4040+737delinsC
NM_014714.4(IFT140):c.3916dup (p.Ala1306fs) rs587776909
NM_014714.4(IFT140):c.4078T>C (p.Cys1360Arg) rs431905520

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