List of variants reported as pathogenic for bone disorder by Pathology and Clinical Laboratory Medicine, King Fahad Medical City

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Total variants: 21

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HGVS	dbSNP	gnomAD frequency
NM_058172.6(ANTXR2):c.1069del (p.Ala357fs)	rs556120147	0.00031
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)	rs137852832	0.00006
NM_058172.6(ANTXR2):c.1074del (p.Ala359fs)	rs312262693	0.00003
NM_000181.4(GUSB):c.1429C>T (p.Arg477Trp)	rs774393243	0.00002
NM_024809.5(TCTN2):c.1506-2A>G	rs374349989	0.00001
NM_000088.4(COL1A1):c.459del (p.Gly154fs)	rs72667017
NM_000203.5(IDUA):c.1496_1497del (p.Glu499fs)	rs2153022799
NM_000203.5(IDUA):c.1868T>C (p.Leu623Pro)	rs2153023287
NM_000203.5(IDUA):c.46_57del (p.Ser16_Ala19del)	rs398123260
NM_000396.4(CTSK):c.5G>A (p.Trp2Ter)	rs1654102585
NM_000396.4(CTSK):c.830C>T (p.Ala277Val)	rs74315304
NM_000512.5(GALNS):c.1429_1455del (p.Glu477_Gln485del)	rs1909818289
NM_001378615.1(CC2D2A):c.2728C>T (p.Arg910Ter)	rs781206278
NM_001378615.1(CC2D2A):c.3084del (p.Lys1029fs)	rs386833749
NM_003193.5(TBCE):c.155_166del (p.Ser52_Gly55del)	rs767004810
NM_006031.6(PCNT):c.398del (p.Phe133fs)	rs1131691484
NM_022356.4(P3H1):c.570_571del (p.Gly191fs)	rs1553143741
NM_025114.4(CEP290):c.4714G>A (p.Glu1572Lys)	rs1292516576
NM_025114.4(CEP290):c.5704G>T (p.Glu1902Ter)	rs267606719
NM_058172.6(ANTXR2):c.134T>C (p.Leu45Pro)	rs886041401
NM_198525.3(KIF7):c.3331C>T (p.Arg1111Ter)	rs778139192

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