ClinVar Miner

List of variants in gene COL9A2 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001852.4(COL9A2):c.1982C>T (p.Pro661Leu) rs150687987 0.00242
NM_001852.4(COL9A2):c.312C>T (p.Pro104=) rs144072834 0.00195
NM_001852.4(COL9A2):c.1041C>T (p.Gly347=) rs138882727 0.00110
NM_001852.4(COL9A2):c.1162-3C>T rs368209124 0.00031
NM_001852.4(COL9A2):c.1962G>T (p.Leu654=) rs142867960 0.00019
NM_001852.4(COL9A2):c.942G>A (p.Thr314=) rs144615318 0.00016
NM_001852.4(COL9A2):c.217C>T (p.Pro73Ser) rs375150574 0.00012
NM_001852.4(COL9A2):c.444G>A (p.Ser148=) rs749975211 0.00009
NM_001852.4(COL9A2):c.682C>T (p.Pro228Ser) rs370064150 0.00005
NM_001852.4(COL9A2):c.1639G>A (p.Glu547Lys) rs367889792 0.00001
NM_001852.4(COL9A2):c.1798C>T (p.Arg600Cys) rs749078666 0.00001
NM_001852.4(COL9A2):c.1053+1G>A rs1064797109
NM_001852.4(COL9A2):c.1242del (p.Gly415fs) rs756694568
NM_001852.4(COL9A2):c.1322T>C (p.Val441Ala)
NM_001852.4(COL9A2):c.1332del (p.Val446fs) rs1557793484
NM_001852.4(COL9A2):c.1380C>T (p.Gly460=)
NM_001852.4(COL9A2):c.1848G>A (p.Met616Ile) rs2124035280
NM_001852.4(COL9A2):c.2051G>A (p.Gly684Glu)

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