ClinVar Miner

List of variants reported as benign for Osteogenesis imperfecta type 8 by Genome-Nilou Lab

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_022356.4(P3H1):c.*257G>A rs6882 0.63640
NM_022356.4(P3H1):c.1839-30G>A rs3738499 0.52507
NM_022356.4(P3H1):c.2055+17C>T rs67014447 0.06792
NM_022356.4(P3H1):c.1915-20T>G rs3738498 0.06305
NM_022356.4(P3H1):c.1045G>A (p.Gly349Arg) rs6700677 0.06024
NM_022356.4(P3H1):c.940+90A>G rs114545255 0.00700
NM_022356.4(P3H1):c.2055+193G>A rs116577636 0.00625
NM_022356.4(P3H1):c.1716C>T (p.Ile572=) rs35500164 0.00563
NM_022356.4(P3H1):c.2115C>T (p.Leu705=) rs199887811 0.00409
NM_022356.4(P3H1):c.33A>G (p.Thr11=) rs144378478 0.00140
NM_022356.4(P3H1):c.1071C>T (p.Gly357=) rs202234531 0.00014
NM_022356.4(P3H1):c.2055+13C>G rs76628300

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