ClinVar Miner

List of variants in gene COL2A1 studied for achondrogenesis type II

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 14
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NM_001844.5(COL2A1):c.1520G>A (p.Gly507Glu) rs868417981
NM_001844.5(COL2A1):c.1547G>A (p.Gly516Asp) rs121912888
NM_001844.5(COL2A1):c.1637G>T (p.Gly546Val) rs121912899
NM_001844.5(COL2A1):c.1680+2T>G rs1565681966
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) rs121912893
NM_001844.5(COL2A1):c.1979G>A (p.Gly660Glu) rs1555166729
NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter) rs794727261
NM_001844.5(COL2A1):c.2618G>T (p.Gly873Val) rs886042009
NM_001844.5(COL2A1):c.2671G>C (p.Gly891Arg) rs121912879
NM_001844.5(COL2A1):c.2905G>A (p.Gly969Ser) rs121912878
NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) rs121912874
NM_001844.5(COL2A1):c.3062_3079del (p.Pro1021_Gly1026del) rs1555165335
NM_001844.5(COL2A1):c.734C>T (p.Pro245Leu) rs1592232018
NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu) rs142770543

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