List of variants in gene combination IFT172, KRTCAP3 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.5179T>C (p.Cys1727Arg)	rs149614625	0.00004
NM_001168364.2(KRTCAP3):c.5+455_5+465del
NM_015662.3(IFT172):c.4680_4683del (p.Ser1561fs)	rs1665095139
NM_015662.3(IFT172):c.4701C>A (p.His1567Gln)	rs786205855
NM_015662.3(IFT172):c.4789dup (p.Leu1597fs)	rs2148467517
NM_015662.3(IFT172):c.4853del (p.Ser1618fs)	rs2148467030
NM_015662.3(IFT172):c.4925_4928del (p.Arg1642fs)	rs587777078
NM_015662.3(IFT172):c.4936C>T (p.Arg1646Ter)
NM_015662.3(IFT172):c.4966C>T (p.Gln1656Ter)
NM_015662.3(IFT172):c.5044C>T (p.Arg1682Ter)	rs1329856696

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