List of variants studied for bone disorder by Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001429.4(EP300):c.5961_5962del (p.Gly1988fs)	rs2517833741
NM_004380.3(CREBBP):c.3292del (p.Thr1097_Leu1098insTer)	rs1596856390
NM_004380.3(CREBBP):c.6587_6588dup (p.Leu2197fs)	rs2548344893
NM_020297.4(ABCC9):c.3346C>T (p.Arg1116Cys)	rs387907228
NM_022455.5(NSD1):c.1492C>T (p.Arg498Ter)	rs1581315609
NM_022455.5(NSD1):c.2645C>G (p.Ser882Ter)	rs2149845949
NM_022552.5(DNMT3A):c.1258A>T (p.Lys420Ter)	rs1674811011
NM_022552.5(DNMT3A):c.1279G>T (p.Glu427Ter)	rs1558669897

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