ClinVar Miner

List of variants in gene combination IFT140, LOC105371046 reported as pathogenic for Jeune thoracic dystrophy

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Total variants: 4
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HGVS dbSNP
NM_014714.4(IFT140):c.1010-1G>A rs770185023
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.874G>A (p.Val292Met) rs431905521

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