ClinVar Miner

List of variants in gene combination IFT140, LOC105371046 reported by OMIM

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg) rs201188361 0.00008
NM_014714.4(IFT140):c.1451C>T (p.Thr484Met) rs758052634 0.00001
NM_014714.4(IFT140):c.985T>C (p.Cys329Arg) rs1441549097 0.00001
NM_014714.4(IFT140):c.1380del (p.Asn460fs) rs431905522
NM_014714.4(IFT140):c.857_860del (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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