List of variants studied for bone disorder by Laboratory of Functional Genomics, Research Centre for Medical Genetics

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001177316.2(SLC34A3):c.846G>A (p.Pro282=)	rs121918236	0.00004
NM_001844.5(COL2A1):c.3702C>A (p.Asp1234Glu)	rs891008017	0.00001
NM_000047.3(ARSL):c.1289+1G>A	rs2147349066
NM_000474.4(TWIST1):c.325C>T (p.Gln109Ter)	rs2486049961
NM_001844.5(COL2A1):c.1339G>A (p.Gly447Ser)	rs2540151542
NM_001844.5(COL2A1):c.1802_1833+55del	rs2540144358
NM_001844.5(COL2A1):c.2173_2181del (p.722PGT[1])	rs2540135688
NM_001844.5(COL2A1):c.2302-1G>T	rs2540132223
NM_001844.5(COL2A1):c.3626G>A (p.Gly1209Asp)	rs1131692022
NM_001844.5(COL2A1):c.4345_4346del (p.Val1449fs)	rs2540091565
NM_001844.5(COL2A1):c.491dup (p.Gly165fs)	rs1592235241
NM_001844.5(COL2A1):c.661C>T (p.Gln221Ter)	rs2540174635
NM_001844.5(COL2A1):c.870+5_870+7delinsCCTTTGTGAGAAGGTTACTTC	rs2540169004
NM_022095.4(ZNF335):c.3206A>G (p.His1069Arg)	rs2515526371

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