List of variants reported as uncertain significance for bone development disease by Centogene AG - the Rare Disease Company

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001395413.1(POR):c.1882G>A (p.Val628Ile)	rs145782750	0.00106
NM_015909.4(NBAS):c.3932-9A>G	rs533290092	0.00003
NM_000088.4(COL1A1):c.287C>T (p.Pro96Leu)	rs747163212	0.00001
NM_015425.6(POLR1A):c.1543C>T (p.Arg515Ter)	rs1673257008	0.00001
NM_000095.3(COMP):c.314C>T (p.Thr105Met)	rs1377001812
NM_001429.4(EP300):c.7220C>T (p.Ser2407Leu)	rs1424813619
NM_001844.5(COL2A1):c.2719C>T (p.Pro907Ser)	rs1398589070
NM_003412.4(ZIC1):c.1097T>A (p.Met366Lys)	rs1189648689
NM_207037.2(TCF12):c.2068C>T (p.Pro690Ser)	rs2061739586

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