ClinVar Miner

List of variants in gene combination IFT140, LOC105371046 reported as benign 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: 12
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HGVS dbSNP
NM_014714.4(IFT140):c.-17G>C rs1894649
NM_014714.4(IFT140):c.1200C>T (p.Ser400=) rs778020037
NM_014714.4(IFT140):c.1336A>G (p.Ile446Val) rs139619013
NM_014714.4(IFT140):c.1352C>T (p.Ala451Val) rs8060532
NM_014714.4(IFT140):c.322G>A (p.Val108Met) rs146128830
NM_014714.4(IFT140):c.459G>T (p.Thr153=) rs61739554
NM_014714.4(IFT140):c.491+7G>A rs187521755
NM_014714.4(IFT140):c.546C>T (p.Asp182=) rs150014480
NM_014714.4(IFT140):c.635-12G>C rs12447357
NM_014714.4(IFT140):c.836G>C (p.Arg279Pro) rs4786350
NM_014714.4(IFT140):c.838C>T (p.Arg280Trp) rs8058674
NM_014714.4(IFT140):c.839G>A (p.Arg280Gln) rs35404373

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