List of variants studied for Sotos syndrome by New York Genome Center

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_022455.5(NSD1):c.3311A>G (p.His1104Arg)	rs758125212	0.00004
NM_022455.5(NSD1):c.1579G>A (p.Gly527Arg)	rs1488271424	0.00001
NM_022455.5(NSD1):c.2363G>A (p.Arg788Gln)	rs751258086	0.00001
NM_022455.4:c.928-10312_3797-10414del
NM_022455.5(NSD1):c.1028C>G (p.Ser343Cys)	rs1761727286
NM_022455.5(NSD1):c.1921A>G (p.Thr641Ala)	rs1763234813
NM_022455.5(NSD1):c.2077A>G (p.Asn693Asp)	rs773782115
NM_022455.5(NSD1):c.2267A>T (p.Asn756Ile)	rs139085502
NM_022455.5(NSD1):c.2963C>T (p.Ser988Phe)	rs1465577289
NM_022455.5(NSD1):c.3438T>G (p.Asp1146Glu)	rs1180409864
NM_022455.5(NSD1):c.5549C>T (p.Ala1850Val)	rs2127241862

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