List of variants studied for bone disorder by Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center

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Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter)	rs182018947	0.00048
NM_000444.6(PHEX):c.10G>C (p.Glu4Gln)	rs147859619	0.00037
NM_002472.3(MYH8):c.3874C>T (p.Arg1292Ter)	rs150008607	0.00024
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val)	rs137852849	0.00024
NM_000088.4(COL1A1):c.3766G>A (p.Ala1256Thr)	rs148216434	0.00006
NM_014694.4(ADAMTSL2):c.2717C>T (p.Pro906Leu)	rs969732840	0.00005
NM_003193.5(TBCE):c.143_144del (p.Lys48fs)	rs758937799	0.00003
NM_004995.4(MMP14):c.850+2C>T	rs757044765	0.00001
NM_000181.4(GUSB):c.1834del (p.Gln612fs)	rs1085307069
NM_000263.4(NAGLU):c.1694G>C (p.Arg565Pro)	rs104894598
NM_000288.4(PEX7):c.183del (p.Phe61fs)	rs774131564
NM_001377.3(DYNC2H1):c.2353C>T (p.Arg785Ter)	rs755883373
NM_002448.3(MSX1):c.471G>T (p.Arg157Ser)	rs150284621
NM_004239.4(TRIP11):c.2498_2501del (p.Lys833fs)	rs1085307101
NM_004260.4(RECQL4):c.1390+1G>T	rs1085307090
NM_005816.5(CD96):c.54dup (p.Val19fs)	rs200703204
NM_014714.4(IFT140):c.1167del (p.Lys390fs)	rs1085307074
NM_015311.3(OBSL1):c.2135-7CA[2]	rs140112967
NM_152281.3(GORAB):c.408_409del (p.Lys137fs)	rs1085307068

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