List of variants studied for bone disorder by Rare Disease Genomics Lab, Stellenbosch Faculty of Medicine

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000088.4(COL1A1):c.1049G>T (p.Gly350Val)	rs2509231370
NM_000088.4(COL1A1):c.2830-2A>C	rs2509182695
NM_000088.4(COL1A1):c.750+1G>T	rs2509241842
NM_000089.4(COL1A2):c.1028G>A (p.Gly343Glu)	rs2484708420
NM_000089.4(COL1A2):c.1927G>A (p.Gly643Arg)	rs2484721857

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