List of variants in gene combination IFT140, LOC126862260 reported as likely pathogenic for bone disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_014714.4(IFT140):c.2769-1G>T
NM_014714.4(IFT140):c.2769-1del
NM_014714.4(IFT140):c.2828_2829dup (p.Ser944fs)
NM_014714.4(IFT140):c.2864+1G>A
NM_014714.4(IFT140):c.2864+2T>C	rs2506121441
NM_014714.4(IFT140):c.2872_2875delinsGT (p.Trp958fs)
NM_014714.4(IFT140):c.2882G>A (p.Trp961Ter)
NM_014714.4(IFT140):c.2948del (p.Asp983fs)	rs2141172226
NM_014714.4(IFT140):c.2997+1G>C	rs2506115448
NM_014714.4(IFT140):c.2997+2T>C	rs2506115439
NM_014714.4(IFT140):c.2998-2del	rs2141171226
NM_014714.4(IFT140):c.3109C>T (p.Gln1037Ter)	rs774547622

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