ClinVar Miner

List of variants in gene COL9A2 studied for not specified

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Total variants: 75
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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.1053+7C>T rs79627294 0.00587
NM_001852.4(COL9A2):c.363+20G>A rs140071740 0.00434
NM_001852.4(COL9A2):c.1870+9T>C rs139929272 0.00406
NM_001852.4(COL9A2):c.1323+18T>G rs186166446 0.00363
NM_001852.4(COL9A2):c.31C>T (p.Leu11Phe) rs74506933 0.00361
NM_001852.4(COL9A2):c.1007C>A (p.Ala336Glu) rs150075912 0.00242
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.1551C>T (p.Gly517=) rs140697524 0.00205
NM_001852.4(COL9A2):c.312C>T (p.Pro104=) rs144072834 0.00195
NM_001852.4(COL9A2):c.2019G>A (p.Ser673=) rs148008235 0.00168
NM_001852.4(COL9A2):c.250-7T>C rs146943340 0.00165
NM_001852.4(COL9A2):c.151-8T>C rs144162904 0.00105
NM_001852.4(COL9A2):c.-37G>C rs376809219 0.00102
NM_001852.4(COL9A2):c.364-13C>T rs201709352 0.00090
NM_001852.4(COL9A2):c.-11del rs757956892 0.00073
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.458C>T (p.Pro153Leu) rs77937237 0.00051
NM_001852.4(COL9A2):c.1824A>G (p.Glu608=) rs138949427 0.00030
NM_001852.4(COL9A2):c.1400A>G (p.Gln467Arg) rs373264436 0.00025
NM_001852.4(COL9A2):c.-32C>T rs372337925 0.00023
NM_001852.4(COL9A2):c.249+19G>A rs117844512 0.00021
NM_001852.4(COL9A2):c.1962G>T (p.Leu654=) rs142867960 0.00019
NM_001852.4(COL9A2):c.217C>T (p.Pro73Ser) rs375150574 0.00012
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.682C>T (p.Pro228Ser) rs370064150 0.00005
NM_001852.4(COL9A2):c.1866C>T (p.Ile622=) rs770970103 0.00002
NM_001852.4(COL9A2):c.303+18G>C rs760684403 0.00002
NM_001852.4(COL9A2):c.577-18C>T rs779055482 0.00002
NM_001852.4(COL9A2):c.982G>A (p.Gly328Arg) rs199733570 0.00002
NM_001852.4(COL9A2):c.1972G>A (p.Val658Met) rs773159349 0.00001
NM_001852.4(COL9A2):c.1980G>A (p.Leu660=) rs765050254 0.00001
NM_001852.4(COL9A2):c.847-10C>T rs766358117 0.00001
NM_001852.4(COL9A2):c.1323+19G>A rs1553182741
NM_001852.4(COL9A2):c.1368+10C>T rs886038499
NM_001852.4(COL9A2):c.1401+13C>T rs1553182640
NM_001852.4(COL9A2):c.1604-26CTCC[4] rs3831927
NM_001852.4(COL9A2):c.1604-26CTCC[7] rs3831927
NM_001852.4(COL9A2):c.1753G>A (p.Val585Met) rs202153520
NM_001852.4(COL9A2):c.1792+5G>A
NM_001852.4(COL9A2):c.1902C>T (p.Asn634=) rs781428852
NM_001852.4(COL9A2):c.239C>A (p.Pro80His) rs2124101224
NM_001852.4(COL9A2):c.303+26G>A rs1983658
NM_001852.4(COL9A2):c.364-16A>C rs1979785
NM_001852.4(COL9A2):c.364-16A>G rs1979785
NM_001852.4(COL9A2):c.417+7C>T rs1553184232
NM_001852.4(COL9A2):c.519+39del rs137881116

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