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

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000088.4(COL1A1):c.459del (p.Gly154fs)	rs72667017
NM_000396.4(CTSK):c.5G>A (p.Trp2Ter)	rs1654102585
NM_000396.4(CTSK):c.830C>T (p.Ala277Val)	rs74315304
NM_006031.6(PCNT):c.398del (p.Phe133fs)	rs1131691484
NM_022356.4(P3H1):c.570_571del (p.Gly191fs)	rs1553143741

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