ClinVar Miner

List of variants in gene combination IFT140, LOC105371046 reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (902):
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Gene type:
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Total variants: 10
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HGVS dbSNP
NM_014714.3(IFT140):c.(?_-1)_(147+1_148-1)del
NM_014714.4(IFT140):c.1010-1G>A rs770185023
NM_014714.4(IFT140):c.1319T>C (p.Leu440Pro) rs1555491448
NM_014714.4(IFT140):c.1377G>A (p.Trp459Ter)
NM_014714.4(IFT140):c.454C>T (p.Leu152Phe) rs1403669200
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg) rs201188361
NM_014714.4(IFT140):c.70C>T (p.His24Tyr) rs939722027
NM_014714.4(IFT140):c.853_856TTGA[1] (p.Ile286fs) rs431905506
NM_014714.4(IFT140):c.874G>A (p.Val292Met) rs431905521
NM_014714.4(IFT140):c.932A>G (p.Tyr311Cys) rs387907193

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