ClinVar Miner

List of variants reported as pathogenic for osteogenesis imperfecta type 2 by OMIM

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
COL1A1, 9-BP DEL
COL1A2, GLY976ASP
NM_000088.4(COL1A1):c.1301G>T (p.Gly434Val) rs72648333
NM_000088.4(COL1A1):c.1598G>A (p.Gly533Asp) rs72648356
NM_000088.4(COL1A1):c.1705G>C (p.Gly569Arg) rs72648363
NM_000088.4(COL1A1):c.1777G>A (p.Gly593Ser) rs66527965
NM_000088.4(COL1A1):c.2156G>A (p.Gly719Asp) rs72651646
NM_000088.4(COL1A1):c.2210G>A (p.Gly737Asp) rs72651651
NM_000088.4(COL1A1):c.2228G>T (p.Gly743Val) rs72651653
NM_000088.4(COL1A1):c.2291G>T (p.Gly764Val) rs72651657
NM_000088.4(COL1A1):c.2444G>T (p.Gly815Val) rs66929517
NM_000088.4(COL1A1):c.2533G>A (p.Gly845Arg) rs72653136
NM_000088.4(COL1A1):c.2552G>A (p.Gly851Asp) rs72653137
NM_000088.4(COL1A1):c.2605G>T (p.Gly869Cys) rs72653143
NM_000088.4(COL1A1):c.2686G>T (p.Gly896Cys) rs72653152
NM_000088.4(COL1A1):c.2776G>T (p.Gly926Cys) rs72653154
NM_000088.4(COL1A1):c.2939G>T (p.Gly980Val) rs72653166
NM_000088.4(COL1A1):c.3073G>A (p.Gly1025Arg) rs72653172
NM_000088.4(COL1A1):c.3141TCCTGGTGC[1] (p.1047APG[2]) rs74315111
NM_000088.4(COL1A1):c.3141TCCTGGTGC[3] (p.Gly1055_Pro1056insAlaProGly) rs74315111
NM_000088.4(COL1A1):c.3182G>A (p.Gly1061Asp) rs72654797
NM_000088.4(COL1A1):c.3244G>T (p.Gly1082Cys) rs72656303
NM_000088.4(COL1A1):c.3271G>A (p.Gly1091Ser) rs72656306
NM_000088.4(COL1A1):c.3452G>T (p.Gly1151Val) rs72656321
NM_000088.4(COL1A1):c.3496G>T (p.Gly1166Cys) rs72656324
NM_000088.4(COL1A1):c.3541G>A (p.Gly1181Ser) rs72656330
NM_000088.4(COL1A1):c.3559G>A (p.Gly1187Ser) rs72656332
NM_000088.4(COL1A1):c.3969dup (p.Val1324fs) rs2144534312
NM_000088.4(COL1A1):c.4160C>T (p.Ala1387Val) rs397514672
NM_000088.4(COL1A1):c.4247del (p.Thr1416fs) rs398122835
NM_000088.4(COL1A1):c.824G>A (p.Gly275Asp) rs72645333
NM_000088.4(COL1A1):c.944_1123dup (p.Gly320_Lys352delinsValSerThrProGlyProLeuGlyAspProTer) rs2144577336
NM_000088.4(COL1A1):c.957+5G>A rs72645350
NM_000089.4(COL1A2):c.1262G>A (p.Gly421Asp) rs267606741
NM_000089.4(COL1A2):c.1414G>T (p.Gly472Cys) rs121912906
NM_000089.4(COL1A2):c.1504G>A (p.Gly502Ser) rs121912910
NM_000089.4(COL1A2):c.1612-2A>G rs1799871
NM_000089.4(COL1A2):c.1640G>A (p.Gly547Asp) rs121912901
NM_000089.4(COL1A2):c.1739G>A (p.Gly580Asp) rs121912909
NM_000089.4(COL1A2):c.1973_2025+1del rs2115924259
NM_000089.4(COL1A2):c.2025+334_2565+183del
NM_000089.4(COL1A2):c.2025+5G>A rs72658157
NM_000089.4(COL1A2):c.2080G>C (p.Gly694Arg) rs121912908
NM_000089.4(COL1A2):c.2414G>A (p.Gly805Asp) rs121912904
NM_000089.4(COL1A2):c.2593G>A (p.Gly865Ser) rs121912902
NM_000089.4(COL1A2):c.2720G>A (p.Gly907Asp) rs121912900

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