List of variants reported for Saldino-Mainzer syndrome by Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu)	rs199826737	0.00009
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg)	rs201188361	0.00008
NM_014714.4(IFT140):c.1319T>C (p.Leu440Pro)	rs1555491448	0.00001
NM_014714.4(IFT140):c.454C>T (p.Leu152Phe)	rs1403669200	0.00001
NM_014714.3(IFT140):c.(?_-1)_(147+1_148-1)del
NM_014714.4(IFT140):c.2577+25G>A	rs1423102192
NM_014714.4(IFT140):c.3454-488_4182+2588dup

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