ClinVar Miner

List of variants in gene COL9A2 reported as likely benign by Preventiongenetics, part of Exact Sciences

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001852.4(COL9A2):c.544A>G (p.Met182Val) rs113549021 0.00866
NM_001852.4(COL9A2):c.1323+18T>G rs186166446 0.00363
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.2019G>A (p.Ser673=) rs148008235 0.00168
NM_001852.4(COL9A2):c.304-14C>T rs180908956 0.00054
NM_001852.4(COL9A2):c.1188G>A (p.Val396=) rs201054854 0.00009
NM_001852.4(COL9A2):c.1871-8G>T rs372902486 0.00006
NM_001852.4(COL9A2):c.1866C>T (p.Ile622=) rs770970103 0.00002
NM_001852.4(COL9A2):c.982G>A (p.Gly328Arg) rs199733570 0.00002
NM_001852.4(COL9A2):c.1368+10C>T rs886038499
NM_001852.4(COL9A2):c.1902C>T (p.Asn634=) rs781428852
NM_001852.4(COL9A2):c.519+39del rs137881116

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