ClinVar Miner

List of variants in gene COL9A2 reported by Eurofins NTD LLC (GA)

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_001852.4(COL9A2):c.1368+16A>G rs6684531 0.07104
NM_001852.4(COL9A2):c.1741G>A (p.Val581Ile) rs3737821 0.06797
NM_001852.4(COL9A2):c.1288-12C>T rs77695700 0.02575
NM_001852.4(COL9A2):c.31C>T (p.Leu11Phe) rs74506933 0.00361
NM_001852.4(COL9A2):c.1007C>A (p.Ala336Glu) rs150075912 0.00242
NM_001852.4(COL9A2):c.1982C>T (p.Pro661Leu) rs150687987 0.00242
NM_001852.4(COL9A2):c.1981C>A (p.Pro661Thr) rs140041506 0.00230
NM_001852.4(COL9A2):c.1551C>T (p.Gly517=) rs140697524 0.00205
NM_001852.4(COL9A2):c.312C>T (p.Pro104=) rs144072834 0.00195
NM_001852.4(COL9A2):c.2019G>A (p.Ser673=) rs148008235 0.00168
NM_001852.4(COL9A2):c.250-7T>C rs146943340 0.00165
NM_001852.4(COL9A2):c.1576G>A (p.Val526Met) rs141556170 0.00111
NM_001852.4(COL9A2):c.1041C>T (p.Gly347=) rs138882727 0.00110
NM_001852.4(COL9A2):c.2058C>T (p.Ile686=) rs115675008 0.00034
NM_001852.4(COL9A2):c.919G>A (p.Gly307Ser) rs184896618 0.00008
NM_001852.4(COL9A2):c.1219C>A (p.Pro407Thr) rs565855414 0.00006
NM_001852.4(COL9A2):c.232G>A (p.Gly78Arg) rs376722979 0.00006
NM_001852.4(COL9A2):c.1093C>T (p.Pro365Ser) rs774190227 0.00002
NM_001852.4(COL9A2):c.1857C>G (p.Pro619=) rs771660985 0.00002
NM_001852.4(COL9A2):c.1843G>A (p.Gly615Arg) rs760311046 0.00001
NM_001852.4(COL9A2):c.688C>T (p.Pro230Ser) rs763700283 0.00001
NM_001852.4(COL9A2):c.846+10C>T rs1045951380 0.00001
NM_001852.4(COL9A2):c.1504G>A (p.Gly502Arg) rs1462099143
NM_001852.4(COL9A2):c.1564G>C (p.Asp522His) rs150020975
NM_001852.4(COL9A2):c.1604-26CTCC[4] rs3831927
NM_001852.4(COL9A2):c.481G>A (p.Gly161Arg) rs886042644
NM_001852.4(COL9A2):c.802G>T (p.Gly268Cys) rs753732622

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