List of variants reported as uncertain significance for Smith-Magenis syndrome by New York Genome Center

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_030665.4(RAI1):c.5528T>C (p.Phe1843Ser)	rs145732429	0.00006
NM_030665.4(RAI1):c.817C>T (p.Arg273Cys)	rs758637644	0.00003
NM_030665.4(RAI1):c.239G>A (p.Arg80Gln)	rs372896387	0.00002
NM_030665.4(RAI1):c.3590G>T (p.Gly1197Val)	rs368975225	0.00002
NM_030665.4(RAI1):c.458C>T (p.Pro153Leu)	rs1468262694	0.00002
NM_030665.4(RAI1):c.5225G>T (p.Gly1742Val)	rs558768145	0.00002
NM_030665.4(RAI1):c.226G>A (p.Asp76Asn)	rs936181213	0.00001
NM_030665.4(RAI1):c.4114G>A (p.Gly1372Arg)	rs149839441	0.00001
NM_030665.4(RAI1):c.4963G>A (p.Gly1655Ser)	rs794727522	0.00001
NM_030665.4(RAI1):c.514C>T (p.His172Tyr)	rs143161740	0.00001
NM_030665.4(RAI1):c.3168T>G (p.Cys1056Trp)	rs2143002559
NM_030665.4(RAI1):c.3649C>T (p.Arg1217Trp)	rs898986244

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