ClinVar Miner

List of variants in gene COL2A1 reported as pathogenic for Pierre Robin syndrome associated with collagen disease

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 34
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HGVS dbSNP
COL2A1, 1-BP DEL, EX40
COL2A1, 1-BP DEL, EX50
COL2A1, 2-BP DEL, 4274GT
COL2A1, 28-BP DEL
COL2A1, IVS10AS, A-G, -2
COL2A1, IVS17, A-G, -2
COL2A1, IVS20, A-G, -2
COL2A1, IVS24, G-A, +5
COL2A1, IVS25DS, G-A, +1
COL2A1, IVS51DS, T-C, +2
NM_001844.5(COL2A1):c.1177G>A (p.Gly393Ser) rs1025202963
NM_001844.5(COL2A1):c.1191_1199dup (p.Ser400_Gly402dup) rs672601355
NM_001844.5(COL2A1):c.1266+1del rs587776847
NM_001844.5(COL2A1):c.141G>A (p.Trp47Ter) rs121912896
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys) rs121912884
NM_001844.5(COL2A1):c.170G>A (p.Cys57Tyr) rs121912898
NM_001844.5(COL2A1):c.192C>A (p.Cys64Ter) rs121912897
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) rs121912893
NM_001844.5(COL2A1):c.1999C>T (p.Leu667Phe) rs121912885
NM_001844.5(COL2A1):c.2035A>T (p.Lys679Ter) rs1565679039
NM_001844.5(COL2A1):c.2381del (p.Pro794fs) rs1555166218
NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter) rs794727261
NM_001844.5(COL2A1):c.2794C>T (p.Arg932Ter) rs121912866
NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) rs121912874
NM_001844.5(COL2A1):c.3138del (p.Gly1047fs) rs121912873
NM_001844.5(COL2A1):c.3166-1G>A rs1555165204
NM_001844.5(COL2A1):c.3357_3358insCT (p.Glu1120fs) rs672601354
NM_001844.5(COL2A1):c.3642del (p.Gly1215fs)
NM_001844.5(COL2A1):c.3731del (p.Ala1244fs) rs1555164735
NM_001844.5(COL2A1):c.578_579GC[1] (p.Ala194fs)
NM_001844.5(COL2A1):c.625C>T (p.Arg209Ter) rs121912869
NM_001844.5(COL2A1):c.800G>A (p.Gly267Asp) rs121912872
NM_001844.5(COL2A1):c.908G>A (p.Gly303Asp) rs121912877
NM_001844.5(COL2A1):c.952G>A (p.Gly318Arg) rs121912894

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