List of variants studied for Smith-Magenis syndrome by Mendelics

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_030665.4(RAI1):c.840del (p.Gln280fs)	rs34083643	0.35741
NM_030665.4(RAI1):c.3650G>A (p.Arg1217Gln)	rs142415050	0.00063
NM_030665.4(RAI1):c.3778GAG[1] (p.Glu1261del)	rs149716029
NM_030665.4(RAI1):c.4814del (p.Asp1605fs)	rs1598093659
NM_030665.4(RAI1):c.5709+5G>C	rs2143006568

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