ClinVar Miner

Variants in gene COL9A3 with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 32
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HGVS dbSNP gnomAD frequency
NM_001853.4(COL9A3):c.280C>T (p.Pro94Ser) rs35908728 0.04973
NM_001853.4(COL9A3):c.*9G>A rs116108376 0.00986
NM_001853.4(COL9A3):c.308G>A (p.Arg103Gln) rs142639450 0.00847
NM_001853.4(COL9A3):c.520-6C>T rs45476191 0.00844
NM_001853.4(COL9A3):c.147+219G>A rs535876836 0.00759
NM_001853.4(COL9A3):c.309+11G>A rs146033082 0.00541
NM_001853.4(COL9A3):c.209C>T (p.Pro70Leu) rs143307835 0.00454
NM_001853.4(COL9A3):c.410T>C (p.Leu137Pro) rs147947060 0.00389
NM_001853.4(COL9A3):c.1864+12C>T rs78381731 0.00287
NM_001853.4(COL9A3):c.755G>A (p.Arg252Gln) rs139573483 0.00231
NM_001853.4(COL9A3):c.1726G>A (p.Ala576Thr) rs116005499 0.00180
NM_001853.4(COL9A3):c.79-7G>A rs200155296 0.00180
NM_001853.4(COL9A3):c.468C>T (p.Pro156=) rs137979802 0.00169
NM_001853.4(COL9A3):c.791C>T (p.Ala264Val) rs140330666 0.00157
NM_001853.4(COL9A3):c.237G>A (p.Pro79=) rs141960487 0.00142
NM_001853.4(COL9A3):c.19T>A (p.Cys7Ser) rs770930161 0.00129
NM_001853.4(COL9A3):c.891C>T (p.Ser297=) rs142412708 0.00116
NM_001853.4(COL9A3):c.1776C>T (p.Pro592=) rs138477294 0.00113
NM_001853.4(COL9A3):c.1918G>A (p.Glu640Lys) rs553583384 0.00089
NM_001853.4(COL9A3):c.1242C>T (p.Pro414=) rs150153886 0.00085
NM_001853.4(COL9A3):c.847-16C>T rs188924459 0.00069
NM_001853.4(COL9A3):c.739-8C>T rs372090537 0.00060
NM_001853.4(COL9A3):c.1245C>A (p.Gly415=) rs73598379 0.00011
NM_001853.4(COL9A3):c.245C>T (p.Pro82Leu) rs199653123 0.00011
NM_001853.4(COL9A3):c.537G>A (p.Pro179=) rs530176764 0.00009
NM_001853.4(COL9A3):c.325C>T (p.Pro109Ser) rs774823793 0.00002
NM_001853.4(COL9A3):c.1215+36dup rs397840562
NM_001853.4(COL9A3):c.1816G>A (p.Ala606Thr) rs142792529
NM_001853.4(COL9A3):c.182C>T (p.Pro61Leu) rs149582526
NM_001853.4(COL9A3):c.255+18_255+20dup rs377557569
NM_001853.4(COL9A3):c.685-4G>T rs57739618
NM_001853.4(COL9A3):c.93CGGCCCCCC[1] (p.33PPG[2]) rs544133282

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