ClinVar Miner

List of variants in gene COL9A1 reported by Eurofins NTD LLC (GA)

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_001851.6(COL9A1):c.2271G>A (p.Pro757=) rs2072650 0.01180
NM_001851.6(COL9A1):c.1656T>C (p.Pro552=) rs80251646 0.00493
NM_001851.6(COL9A1):c.1349A>G (p.Glu450Gly) rs77706858 0.00348
NM_001851.6(COL9A1):c.1288-4T>A rs142431834 0.00315
NM_001851.6(COL9A1):c.1089+9C>G rs142247988 0.00221
NM_001851.6(COL9A1):c.138G>A (p.Lys46=) rs139361722 0.00214
NM_001851.6(COL9A1):c.904G>A (p.Gly302Ser) rs151129325 0.00207
NM_001851.6(COL9A1):c.1288-9A>G rs181039243 0.00133
NM_001851.6(COL9A1):c.2585A>C (p.Asp862Ala) rs202176764 0.00079
NM_001851.6(COL9A1):c.2240C>G (p.Pro747Arg) rs149459564 0.00077
NM_001851.6(COL9A1):c.1053G>A (p.Ser351=) rs75433477 0.00067
NM_001851.6(COL9A1):c.353G>A (p.Arg118Gln) rs143848379 0.00061
NM_001851.6(COL9A1):c.2159G>A (p.Arg720Gln) rs192467838 0.00041
NM_001851.6(COL9A1):c.1130G>A (p.Arg377His) rs142328549 0.00039
NM_001851.6(COL9A1):c.2436G>T (p.Gln812His) rs141830060 0.00039
NM_001851.6(COL9A1):c.333C>T (p.Tyr111=) rs141047907 0.00031
NM_001851.6(COL9A1):c.2011G>A (p.Glu671Lys) rs141825151 0.00029
NM_001851.6(COL9A1):c.1634G>A (p.Arg545His) rs145698301 0.00025
NM_001851.6(COL9A1):c.1070G>A (p.Arg357His) rs139288475 0.00016
NM_001851.6(COL9A1):c.1558G>A (p.Gly520Arg) rs147731531 0.00014
NM_001851.6(COL9A1):c.462A>G (p.Val154=) rs150571620 0.00010
NM_001851.6(COL9A1):c.2348G>A (p.Arg783His) rs375684014 0.00006
NM_001851.6(COL9A1):c.635T>C (p.Ile212Thr) rs141776183 0.00006
NM_001851.6(COL9A1):c.2675C>T (p.Pro892Leu) rs760617713 0.00005
NM_001851.6(COL9A1):c.1341+5G>A rs794727203 0.00001
NM_001851.6(COL9A1):c.1411C>T (p.Arg471Ter) rs745532481 0.00001
NM_001851.6(COL9A1):c.2562T>C (p.Pro854=) rs1135057 0.00001
NM_001851.6(COL9A1):c.2590G>A (p.Gly864Ser) rs745421286 0.00001
NM_001851.6(COL9A1):c.626G>A (p.Arg209Lys) rs571441243 0.00001
NM_001851.6(COL9A1):c.88+7G>C rs755501266 0.00001
NM_001851.6(COL9A1):c.971C>G (p.Ala324Gly) rs750301684 0.00001
NM_001851.6(COL9A1):c.1052C>A (p.Ser351Ter) rs201035486
NM_001851.6(COL9A1):c.1342-11_1342-3del rs774856588
NM_001851.6(COL9A1):c.1391C>A (p.Pro464His) rs1554240668
NM_001851.6(COL9A1):c.155A>T (p.Asp52Val) rs886044243
NM_001851.6(COL9A1):c.1728T>G (p.Pro576=) rs9346373
NM_001851.6(COL9A1):c.1838G>A (p.Gly613Glu) rs886044124
NM_001851.6(COL9A1):c.2034+19T>C rs13202029
NM_001851.6(COL9A1):c.2076A>G (p.Glu692=) rs557157592
NM_001851.6(COL9A1):c.56C>T (p.Pro19Leu) rs146700420
NM_001851.6(COL9A1):c.953_961del (p.Lys318_Gly320del) rs755136585

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