List of variants in gene combination IFT172, LOC126806173 reported as pathogenic for Jeune syndrome

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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: 10

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HGVS	dbSNP	gnomAD frequency
NM_015662.3(IFT172):c.3793G>T (p.Glu1265Ter)	rs999731005	0.00001
NM_015662.3(IFT172):c.3907C>T (p.Arg1303Ter)	rs587777087	0.00001
NM_015662.3(IFT172):c.3944G>A (p.Trp1315Ter)	rs778898472	0.00001
NM_015662.3(IFT172):c.3562C>T (p.Gln1188Ter)
NM_015662.3(IFT172):c.3628dup (p.Ala1210fs)
NM_015662.3(IFT172):c.3634G>T (p.Glu1212Ter)
NM_015662.3(IFT172):c.3648dup (p.Gln1217fs)
NM_015662.3(IFT172):c.3850C>T (p.Arg1284Ter)	rs1366937730
NM_015662.3(IFT172):c.3914_3915del (p.Ser1305fs)
NM_015662.3(IFT172):c.3949A>T (p.Lys1317Ter)	rs2148485970

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