List of variants reported as pathogenic for Meckel syndrome by Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001077418.3(TMEM231):c.316G>A (p.Glu106Lys)	rs2080685279	0.00001
NM_017777.4(MKS1):c.367C>T (p.Arg123Ter)	rs762482919	0.00001
NM_153704.6(TMEM67):c.2439G>A (p.Ala813=)	rs201791586	0.00001
NM_017777.4(MKS1):c.1066C>T (p.Gln356Ter)	rs786205508
NM_017777.4(MKS1):c.1126dup (p.Thr376fs)	rs2143753386
NM_017777.4(MKS1):c.261+2T>A	rs886039803
NM_025114.4(CEP290):c.673_674del (p.Leu225fs)	rs886039805
NM_153704.6(TMEM67):c.2306del (p.Leu769fs)	rs2130757733
NM_153704.6(TMEM67):c.2326T>A (p.Ser776Thr)	rs748937483

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