ClinVar Miner

List of variants in gene COL9A1 studied for bone development disease

Included ClinVar conditions (618):
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Gene type:
ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_001851.6(COL9A1):c.1504-32T>G rs633762 0.83978
NM_001851.6(COL9A1):c.1765-26T>C rs519068 0.48558
NM_001851.6(COL9A1):c.1015T>C (p.Ser339Pro) rs592121 0.46927
NM_001851.6(COL9A1):c.1720-24A>C rs701690 0.42215
NM_001851.6(COL9A1):c.1862A>G (p.Gln621Arg) rs1135056 0.38283
NM_001851.6(COL9A1):c.2259+32T>C rs12191701 0.36512
NM_001851.6(COL9A1):c.1230+12T>C rs6935778 0.15856
NM_001851.6(COL9A1):c.1612-26C>A rs13219431 0.13355
NM_001851.6(COL9A1):c.877-23C>G rs6928611 0.07064
NM_001851.6(COL9A1):c.2470C>A (p.Pro824Thr) rs34119578 0.01848
NM_001851.6(COL9A1):c.1349A>G (p.Glu450Gly) rs77706858 0.00348
NM_001851.6(COL9A1):c.902C>T (p.Pro301Leu) rs192047082 0.00083
NM_001851.6(COL9A1):c.353G>A (p.Arg118Gln) rs143848379 0.00061
NM_001851.6(COL9A1):c.876+2dup rs672601329 0.00030
NM_001851.6(COL9A1):c.1634G>A (p.Arg545His) rs145698301 0.00025
NM_001851.6(COL9A1):c.680C>T (p.Pro227Leu) rs145207010 0.00016
NM_001851.6(COL9A1):c.876+2T>A rs149830493 0.00013
NM_001851.6(COL9A1):c.88+19A>C rs188749185 0.00007
NM_001851.6(COL9A1):c.2623G>A (p.Gly875Ser) rs199581593 0.00006
NM_001851.6(COL9A1):c.2228C>T (p.Ala743Val) rs781246762 0.00002
NM_001851.6(COL9A1):c.2270C>T (p.Pro757Leu) rs757218488 0.00002
NM_001851.6(COL9A1):c.1519C>T (p.Arg507Ter) rs189754995 0.00001
NM_001851.6(COL9A1):c.2404G>A (p.Gly802Ser) rs774610828 0.00001
NM_001851.6(COL9A1):c.2552A>G (p.Asn851Ser) rs578034223 0.00001
NM_001851.6(COL9A1):c.626G>A (p.Arg209Lys) rs571441243 0.00001
NM_001851.6(COL9A1):c.1450-1G>T
NM_001851.6(COL9A1):c.14G>A (p.Trp5Ter) rs770789859
NM_001851.6(COL9A1):c.1728T>G (p.Pro576=) rs9346373
NM_001851.6(COL9A1):c.1765-21G>A rs2274584
NM_001851.6(COL9A1):c.1864G>A (p.Gly622Arg)
NM_001851.6(COL9A1):c.2034+19T>C rs13202029
NM_001851.6(COL9A1):c.2079+7dup rs552585742
NM_001851.6(COL9A1):c.2174T>C (p.Val725Ala) rs1428416801
NM_001851.6(COL9A1):c.2260G>C (p.Gly754Arg)
NM_001851.6(COL9A1):c.2284A>G (p.Ile762Val) rs2127559477
NM_001851.6(COL9A1):c.287G>A (p.Arg96Lys)
NM_001851.6(COL9A1):c.352C>T (p.Arg118Ter) rs147237457
NM_001851.6(COL9A1):c.443G>A (p.Gly148Asp)
NM_001851.6(COL9A1):c.73G>C (p.Val25Leu) rs767995228
NM_001851.6(COL9A1):c.883C>T (p.Arg295Ter) rs121912931
NM_001851.6(COL9A1):c.911del (p.Pro304fs)

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