ClinVar Miner

List of variants reported as likely pathogenic for Osteogenesis imperfecta type I

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Total variants: 25
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HGVS dbSNP
NC_000017.10:g.(?_48275502)_(48275885_?)del
NM_000088.3(COL1A1):c.1103G>C (p.Gly368Ala) rs1555574151
NM_000088.3(COL1A1):c.1200+2dup rs1555574113
NM_000088.3(COL1A1):c.1237G>C (p.Gly413Arg) rs1567760604
NM_000088.3(COL1A1):c.1299+5G>A rs193922139
NM_000088.3(COL1A1):c.1462G>A (p.Gly488Ser) rs1328384458
NM_000088.3(COL1A1):c.1516-1G>A rs72648352
NM_000088.3(COL1A1):c.1691G>A (p.Arg564His) rs1800211
NM_000088.3(COL1A1):c.2586del (p.Gly863fs)
NM_000088.3(COL1A1):c.2866G>A (p.Gly956Arg) rs797045033
NM_000088.3(COL1A1):c.3245del (p.Gly1082fs) rs1555572161
NM_000088.3(COL1A1):c.3389G>A (p.Gly1130Asp) rs1567753699
NM_000088.3(COL1A1):c.3407G>C (p.Gly1136Ala) rs1555572013
NM_000088.3(COL1A1):c.35T>G (p.Leu12Arg) rs1555575857
NM_000088.3(COL1A1):c.3893C>A (p.Thr1298Asn) rs1555571755
NM_000088.3(COL1A1):c.3935G>A (p.Trp1312Ter) rs886039880
NM_000088.3(COL1A1):c.671G>T (p.Gly224Val) rs1555574641
NM_000088.3(COL1A1):c.679G>A (p.Gly227Arg) rs1567763007
NM_000088.3(COL1A1):c.751-2A>G rs193922158
NM_000088.3(COL1A1):c.770G>A (p.Gly257Glu) rs1555574496
NM_000088.3(COL1A1):c.779G>T (p.Gly260Val)
NM_000088.3(COL1A1):c.796G>C (p.Gly266Arg) rs1555574493
NM_000088.3(COL1A1):c.805G>C (p.Gly269Arg) rs72645328
NM_000088.3(COL1A1):c.[1601T>A];[1608_1614+25del]
NM_000089.3(COL1A2):c.433-3T>G rs1554395470

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