ClinVar Miner

List of variants in gene COL9A1 reported as likely benign by PreventionGenetics, part of Exact Sciences

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_001851.6(COL9A1):c.1349A>G (p.Glu450Gly) rs77706858 0.00348
NM_001851.6(COL9A1):c.1089+9C>G rs142247988 0.00221
NM_001851.6(COL9A1):c.801+11G>C rs200305129 0.00113
NM_001851.6(COL9A1):c.902C>T (p.Pro301Leu) rs192047082 0.00083
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.2113-19G>A rs187218937 0.00076
NM_001851.6(COL9A1):c.1053G>A (p.Ser351=) rs75433477 0.00067
NM_001851.6(COL9A1):c.460G>C (p.Val154Leu) rs138583508 0.00031
NM_001851.6(COL9A1):c.795C>G (p.Thr265=) rs149067801 0.00019
NM_001851.6(COL9A1):c.976-10G>T rs200618486 0.00019
NM_001851.6(COL9A1):c.2754G>A (p.Gly918=) rs373430094 0.00012
NM_001851.6(COL9A1):c.1554T>C (p.Asp518=) rs746982749 0.00011
NM_001851.6(COL9A1):c.780+7C>A rs370822868 0.00011
NM_001851.6(COL9A1):c.674A>T (p.Asp225Val) rs186444567 0.00009
NM_001851.6(COL9A1):c.15-3C>T rs367798424 0.00007
NM_001851.6(COL9A1):c.1504-3C>T rs533952787 0.00006
NM_001851.6(COL9A1):c.1465G>C (p.Asp489His) rs550014166 0.00003
NM_001851.6(COL9A1):c.167-11C>T rs370460481 0.00003
NM_001851.6(COL9A1):c.83G>A (p.Arg28His) rs778243284 0.00003
NM_001851.6(COL9A1):c.1256G>A (p.Arg419His) rs757314373 0.00002
NM_001851.6(COL9A1):c.1458G>C (p.Arg486=) rs569743763 0.00001
NM_001851.6(COL9A1):c.166+12T>C rs886038498 0.00001
NM_001851.6(COL9A1):c.621G>A (p.Lys207=) rs374217818 0.00001
NM_001851.6(COL9A1):c.999C>T (p.Ser333=) rs1034787678 0.00001
NM_001851.6(COL9A1):c.1143+10A>C
NM_001851.6(COL9A1):c.1342-14dup rs537445397
NM_001851.6(COL9A1):c.1342-7T>G
NM_001851.6(COL9A1):c.1342-8_1342-7del
NM_001851.6(COL9A1):c.167-4A>T
NM_001851.6(COL9A1):c.56C>T (p.Pro19Leu) rs146700420
NM_001851.6(COL9A1):c.654T>A (p.Ala218=)
NM_001851.6(COL9A1):c.781-137G>A

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