List of variants in gene IFT81 reported as pathogenic for short rib dysplasia

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_014055.4(IFT81):c.1441C>T (p.Arg481Ter)	rs201791587	0.00005
NM_014055.4(IFT81):c.190C>T (p.Arg64Ter)	rs372027811	0.00003
NM_014055.4(IFT81):c.1066G>T (p.Glu356Ter)
NM_014055.4(IFT81):c.1300CTT[1] (p.Leu435del)	rs1555266475
NM_014055.4(IFT81):c.1717-2A>G	rs1868517084
NM_014055.4(IFT81):c.785T>G (p.Leu262Ter)	rs576969206
Single allele

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