List of variants reported as uncertain significance for Jeune syndrome by New York Genome Center

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_015662.3(IFT172):c.3073C>G (p.Pro1025Ala)	rs61747068	0.00152
NM_015662.3(IFT172):c.4666G>A (p.Val1556Met)	rs141098495	0.00048
NM_015662.3(IFT172):c.2158C>T (p.Arg720Cys)	rs147744868	0.00046
NM_015662.3(IFT172):c.1523G>A (p.Arg508His)	rs144868723	0.00030
NM_015662.3(IFT172):c.1313C>T (p.Pro438Leu)	rs367930028	0.00026
NM_015662.3(IFT172):c.442A>G (p.Ile148Val)	rs759861487	0.00006
NM_015662.3(IFT172):c.4612G>A (p.Ala1538Thr)	rs770733075	0.00002
NM_015662.3(IFT172):c.3932C>T (p.Ala1311Val)	rs760562906	0.00001
NM_015662.3(IFT172):c.4908T>G (p.His1636Gln)	rs201840472	0.00001
NM_014714.4(IFT140):c.3176C>T (p.Ala1059Val)	rs779603114
NM_015662.3(IFT172):c.1720G>C (p.Gly574Arg)
NM_015662.3(IFT172):c.3450G>A (p.Met1150Ile)
NM_015662.3(IFT172):c.3700A>C (p.Asn1234His)	rs746597294
NM_015662.3(IFT172):c.517G>C (p.Asp173His)
NM_022436.3(ABCG5):c.1340C>T (p.Ala447Val)

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