ClinVar Miner

List of variants in gene COL9A2 reported by PreventionGenetics, part of Exact Sciences

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Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_001852.4(COL9A2):c.977A>G (p.Gln326Arg) rs2228564 0.29671
NM_001852.4(COL9A2):c.630+13G>T rs3737815 0.14424
NM_001852.4(COL9A2):c.1161+41C>T rs72944910 0.10729
NM_001852.4(COL9A2):c.249+36C>A rs2273195 0.10565
NM_001852.4(COL9A2):c.1003C>G (p.Leu335Val) rs2228567 0.09793
NM_001852.4(COL9A2):c.364-20A>G rs78091688 0.08404
NM_001852.4(COL9A2):c.1548+28C>A rs76810153 0.07396
NM_001852.4(COL9A2):c.1793-17T>C rs6674856 0.07350
NM_001852.4(COL9A2):c.1368+16A>G rs6684531 0.07104
NM_001852.4(COL9A2):c.1741G>A (p.Val581Ile) rs3737821 0.06797
NM_001852.4(COL9A2):c.1368+12G>A rs112370406 0.05200
NM_001852.4(COL9A2):c.738+10T>C rs56326652 0.04354
NM_001852.4(COL9A2):c.1792+17G>A rs12038020 0.04125
NM_001852.4(COL9A2):c.976C>T (p.Gln326Ter) rs12077871 0.04036
NM_001852.4(COL9A2):c.1062G>A (p.Pro354=) rs6676013 0.03985
NM_001852.4(COL9A2):c.792+16C>T rs77550258 0.03883
NM_001852.4(COL9A2):c.1161+10T>A rs117563156 0.02847
NM_001852.4(COL9A2):c.1288-12C>T rs77695700 0.02575
NM_001852.4(COL9A2):c.792+24C>T rs209916 0.02570
NM_001852.4(COL9A2):c.364-8C>T rs11207843 0.02379
NM_001852.4(COL9A2):c.737C>T (p.Thr246Met) rs2228565 0.02212
NM_001852.4(COL9A2):c.2001C>T (p.Ala667=) rs2229826 0.01771
NM_001852.4(COL9A2):c.955-4C>G rs118135975 0.01678
NM_001852.4(COL9A2):c.1548+17G>C rs74366749 0.01207
NM_001852.4(COL9A2):c.544A>G (p.Met182Val) rs113549021 0.00866
NM_001852.4(COL9A2):c.1150A>C (p.Met384Leu) rs145327896 0.00631
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.1480C>T (p.Pro494Ser) rs202143849 0.00133
NM_001852.4(COL9A2):c.1041C>T (p.Gly347=) rs138882727 0.00110
NM_001852.4(COL9A2):c.151-8T>C rs144162904 0.00105
NM_001852.4(COL9A2):c.1621G>A (p.Ala541Thr) rs200325312 0.00069
NM_001852.4(COL9A2):c.-43G>A rs373454857 0.00062
NM_001852.4(COL9A2):c.304-14C>T rs180908956 0.00054
NM_001852.4(COL9A2):c.376C>A (p.Pro126Thr) rs146903539 0.00043
NM_001852.4(COL9A2):c.1400A>G (p.Gln467Arg) rs373264436 0.00025
NM_001852.4(COL9A2):c.1834G>A (p.Gly612Arg) rs142151614 0.00022
NM_001852.4(COL9A2):c.1962G>T (p.Leu654=) rs142867960 0.00019
NM_001852.4(COL9A2):c.1781C>T (p.Thr594Met) rs567504204 0.00011
NM_001852.4(COL9A2):c.1188G>A (p.Val396=) rs201054854 0.00009
NM_001852.4(COL9A2):c.1237C>T (p.Pro413Ser) rs201985170 0.00009
NM_001852.4(COL9A2):c.919G>A (p.Gly307Ser) rs184896618 0.00008
NM_001852.4(COL9A2):c.1061C>T (p.Pro354Leu) rs201772619 0.00007
NM_001852.4(COL9A2):c.1871-8G>T rs372902486 0.00006
NM_001852.4(COL9A2):c.847-9G>A rs201625720 0.00005
NM_001852.4(COL9A2):c.1866C>T (p.Ile622=) rs770970103 0.00002
NM_001852.4(COL9A2):c.497T>C (p.Leu166Pro) rs756743515 0.00002
NM_001852.4(COL9A2):c.982G>A (p.Gly328Arg) rs199733570 0.00002
NM_001852.4(COL9A2):c.1011T>C (p.Gly337=) rs899548532 0.00001
NM_001852.4(COL9A2):c.824G>A (p.Arg275Gln) rs752496710 0.00001
NM_001852.4(COL9A2):c.1051C>T (p.Gln351Ter)
NM_001852.4(COL9A2):c.1242del (p.Gly415fs) rs756694568
NM_001852.4(COL9A2):c.1272C>T (p.Gly424=)
NM_001852.4(COL9A2):c.1337T>G (p.Val446Gly)
NM_001852.4(COL9A2):c.1368+10C>T rs886038499
NM_001852.4(COL9A2):c.1604-26CTCC[4] rs3831927
NM_001852.4(COL9A2):c.1604-26CTCC[5] rs3831927
NM_001852.4(COL9A2):c.1636C>G (p.Arg546Gly) rs772278003
NM_001852.4(COL9A2):c.1753G>A (p.Val585Met) rs202153520
NM_001852.4(COL9A2):c.1753G>T (p.Val585Leu) rs202153520
NM_001852.4(COL9A2):c.1792+3G>T
NM_001852.4(COL9A2):c.1804G>T (p.Glu602Ter)
NM_001852.4(COL9A2):c.1902C>T (p.Asn634=) rs781428852
NM_001852.4(COL9A2):c.22C>G (p.Pro8Ala)
NM_001852.4(COL9A2):c.303+26G>A rs1983658
NM_001852.4(COL9A2):c.305G>A (p.Gly102Asp)
NM_001852.4(COL9A2):c.307C>T (p.Gln103Ter)
NM_001852.4(COL9A2):c.364-16A>C rs1979785
NM_001852.4(COL9A2):c.364-16A>G rs1979785
NM_001852.4(COL9A2):c.519+39del rs137881116

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