List of variants reported as uncertain significance for bone development disease by Johns Hopkins Genomics, Johns Hopkins University

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_001852.4(COL9A2):c.1576G>A (p.Val526Met)	rs141556170	0.00111
NM_001854.4(COL11A1):c.1427G>A (p.Arg476His)	rs149558726	0.00036
NM_000088.4(COL1A1):c.1042G>A (p.Ala348Thr)	rs139955975	0.00023
NM_001457.4(FLNB):c.6028C>T (p.Arg2010Cys)	rs138034708	0.00013
NM_001853.4(COL9A3):c.753C>G (p.Phe251Leu)	rs376779544	0.00006
NM_003052.5(SLC34A1):c.56G>A (p.Arg19His)	rs765766600	0.00006
NM_001174147.2(LMX1B):c.115C>T (p.Pro39Ser)	rs771784052	0.00001
NM_001374353.1(GLI2):c.4075G>A (p.Glu1359Lys)	rs768928173	0.00001
NM_182943.3(PLOD2):c.778-6T>G	rs768543431	0.00001
NM_000088.4(COL1A1):c.2215C>G (p.Pro739Ala)	rs1282743605
NM_001374353.1(GLI2):c.4325G>A (p.Gly1442Asp)	rs1683230678
NM_003611.3(OFD1):c.2336G>A (p.Arg779Lys)
NM_004380.3(CREBBP):c.6007C>T (p.Pro2003Ser)	rs1282498604
NM_019074.4(DLL4):c.1429G>T (p.Val477Leu)
NM_182943.3(PLOD2):c.2270A>T (p.Asp757Val)	rs1936095846

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