List of variants studied for chromosome 5 disorder by 3billion

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_002397.5(MEF2C):c.258+5G>C	rs2153073717
NM_002397.5(MEF2C):c.402+146C>A	rs1358670337
NM_002397.5(MEF2C):c.835-2A>G
NM_022455.5(NSD1):c.1291T>C (p.Tyr431His)	rs1763178149
NM_022455.5(NSD1):c.1727dup (p.Asn576fs)	rs1299932363
NM_022455.5(NSD1):c.3004_3007del (p.Lys1002fs)	rs2149846876
NM_022455.5(NSD1):c.3067C>T (p.Arg1023Ter)	rs587784095
NM_022455.5(NSD1):c.5296C>T (p.Arg1766Ter)	rs1581491984
NM_022455.5(NSD1):c.5332C>T (p.Arg1778Ter)	rs794727176
NM_022455.5(NSD1):c.5726_5727del (p.Asp1908_Ser1909insTer)	rs2127257129
NM_022455.5(NSD1):c.5741G>A (p.Arg1914His)	rs587784155
NM_022455.5(NSD1):c.6115C>T (p.Arg2039Cys)	rs2127263139

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