ClinVar Miner

List of variants in gene COL6A3 reported as benign for not provided

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Gene type:
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Total variants: 120
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HGVS dbSNP gnomAD frequency
NM_004369.4(COL6A3):c.91+159G>A rs1553032 0.70463
NM_004369.4(COL6A3):c.8965+203A>G rs4233631 0.68567
NM_004369.4(COL6A3):c.6591+297G>A rs10929228 0.63612
NM_004369.4(COL6A3):c.6690+240A>G rs7605340 0.60041
NM_004369.4(COL6A3):c.6690+238A>C rs7605341 0.60034
NM_004369.4(COL6A3):c.6471+106C>T rs4663731 0.59296
NM_004369.4(COL6A3):c.6753+52G>T rs4663727 0.58257
NM_004369.4(COL6A3):c.6753+53C>T rs4663726 0.58254
NM_004369.4(COL6A3):c.6537+212C>G rs7577192 0.40449
NM_004369.4(COL6A3):c.6816+98C>T rs3790995 0.37382
NM_004369.4(COL6A3):c.92-59T>C rs2645778 0.36235
NM_004369.4(COL6A3):c.6472-108C>T rs4663730 0.34139
NM_004369.4(COL6A3):c.6282+277T>G rs2645768 0.33838
NM_004369.4(COL6A3):c.4286-322C>T rs2645775 0.24356
NM_004369.4(COL6A3):c.6064-252T>C rs7597795 0.24071
NM_004369.4(COL6A3):c.6157-54G>C rs2645769 0.22678
NM_004369.4(COL6A3):c.5501-150G>T rs2645770 0.19438
NM_004369.4(COL6A3):c.7092+26G>A rs2270656 0.19247
NM_004369.4(COL6A3):c.6690+134A>G rs2646257 0.19033
NM_004369.4(COL6A3):c.6880-47T>C rs2646263 0.17514
NM_004369.4(COL6A3):c.7029+279G>A rs2645767 0.17474
NM_004369.4(COL6A3):c.8965+219C>G rs10929226 0.13806
NM_004369.4(COL6A3):c.6538-112G>A rs2645777 0.12239
NM_004369.4(COL6A3):c.6628-208G>A rs2645764 0.11161
NM_004369.4(COL6A3):c.6627+243G>T rs2645763 0.11149
NM_004369.4(COL6A3):c.6930+43G>C rs2646264 0.10764
NM_004369.4(COL6A3):c.7512C>T (p.Asn2504=) rs2646258 0.10531
NM_004369.4(COL6A3):c.7093-74T>C rs2256485 0.10397
NM_004369.4(COL6A3):c.8966-124G>A rs11681749 0.08057
NM_004369.4(COL6A3):c.8962A>G (p.Met2988Val) rs11690358 0.07295
NM_004369.4(COL6A3):c.8965+302G>A rs11682162 0.07289
NM_004369.4(COL6A3):c.8965+252T>C rs11687877 0.07283
NM_004369.4(COL6A3):c.9229+245T>A rs76843818 0.07186
NM_004369.4(COL6A3):c.7175-32G>A rs6725567 0.07108
NM_004369.4(COL6A3):c.8451A>G (p.Pro2817=) rs61729844 0.06907
NM_004369.4(COL6A3):c.8966-318C>A rs55837979 0.06899
NM_004369.4(COL6A3):c.8820G>A (p.Thr2940=) rs11683438 0.06890
NM_004369.4(COL6A3):c.7030-77C>T rs6761147 0.06718
NM_004369.4(COL6A3):c.9129C>T (p.Arg3043=) rs10201909 0.06660
NM_004369.4(COL6A3):c.7766-263C>T rs111439101 0.06629
NM_004369.4(COL6A3):c.7669-35C>T rs59232721 0.06612
NM_004369.4(COL6A3):c.9328+212A>C rs75561681 0.06455
NM_004369.4(COL6A3):c.6063+243G>A rs10205605 0.06208
NM_004369.4(COL6A3):c.6691-115G>A rs35309484 0.06166
NM_004369.4(COL6A3):c.6064-71A>G rs3736341 0.06152
NM_004369.4(COL6A3):c.92-99C>A rs58672130 0.06128
NM_004369.4(COL6A3):c.6966+167C>T rs13402341 0.05773
NM_004369.4(COL6A3):c.6966+85_6966+86insT rs150614375 0.05773
NM_004369.4(COL6A3):c.3262A>C (p.Lys1088Gln) rs11896521 0.05751
NM_004369.4(COL6A3):c.6754-301C>A rs73998881 0.05390
NM_004369.4(COL6A3):c.3071-286T>C rs72986160 0.05364
NM_004369.4(COL6A3):c.6210+172T>C rs73998890 0.04560
NM_004369.4(COL6A3):c.4286-313A>C rs77444546 0.04459
NM_004369.4(COL6A3):c.3680-107T>C rs78380978 0.03528
NM_004369.4(COL6A3):c.1313-303T>C rs115886960 0.03273
NM_004369.4(COL6A3):c.1914G>A (p.Arg638=) rs34904623 0.03265
NM_004369.4(COL6A3):c.6282+50C>T rs73998889 0.02963
NM_004369.4(COL6A3):c.7093-243C>G rs75846208 0.02873
NM_004369.4(COL6A3):c.9230-203C>T rs78802632 0.02744
NM_004369.4(COL6A3):c.1976G>A (p.Arg659His) rs36092870 0.02734
NM_004369.4(COL6A3):c.9123G>A (p.Thr3041=) rs61729843 0.02678
NM_004369.4(COL6A3):c.882C>T (p.Phe294=) rs7561625 0.02665
NM_004369.4(COL6A3):c.6930+28C>T rs72986111 0.02626
NM_004369.4(COL6A3):c.5917+28G>C rs73093737 0.02596
NM_004369.4(COL6A3):c.6156+54A>G rs7597574 0.02367
NM_004369.4(COL6A3):c.6817-264G>A rs10167181 0.02077
NM_004369.4(COL6A3):c.1786G>T (p.Ala596Ser) rs34934127 0.02035
NM_004369.4(COL6A3):c.7029+271G>A rs77941529 0.01965
NM_004369.4(COL6A3):c.6628-233C>T rs148306516 0.01907
NM_004369.4(COL6A3):c.6472-176C>T rs116814673 0.01900
NM_004369.4(COL6A3):c.6880-228A>G rs11889732 0.01887
NM_004369.4(COL6A3):c.6967-60A>G rs57728742 0.01820
NM_004369.4(COL6A3):c.7668+21G>C rs11897148 0.01818
NM_004369.4(COL6A3):c.8464+196T>A rs113907246 0.01813
NM_004369.4(COL6A3):c.8822C>T (p.Ala2941Val) rs11903206 0.01334
NM_004369.4(COL6A3):c.1389C>T (p.Ala463=) rs112896869 0.01203
NM_004369.4(COL6A3):c.2419G>A (p.Ala807Thr) rs113155945 0.01061
NM_004369.4(COL6A3):c.6156+4C>T rs111228504 0.00884
NM_004369.4(COL6A3):c.5261A>G (p.Lys1754Arg) rs77632596 0.00808
NM_004369.4(COL6A3):c.1791C>T (p.Phe597=) rs76576170 0.00714
NM_004369.4(COL6A3):c.5059C>T (p.Pro1687Ser) rs35273032 0.00703
NM_004369.4(COL6A3):c.4285+9G>A rs75780727 0.00613
NM_004369.4(COL6A3):c.4183C>T (p.Arg1395Trp) rs73998894 0.00603
NM_004369.4(COL6A3):c.4156G>A (p.Glu1386Lys) rs146092501 0.00602
NM_004369.4(COL6A3):c.4107C>T (p.Ile1369=) rs35114079 0.00549
NM_004369.4(COL6A3):c.1471G>C (p.Asp491His) rs112010940 0.00503
NM_004369.4(COL6A3):c.1475C>G (p.Thr492Ser) rs113897824 0.00503
NM_004369.4(COL6A3):c.7928C>T (p.Ala2643Val) rs111595697 0.00482
NM_004369.4(COL6A3):c.3456C>T (p.Ser1152=) rs112815265 0.00444
NM_004369.4(COL6A3):c.9069C>T (p.Thr3023=) rs111234422 0.00431
NM_004369.4(COL6A3):c.2030G>A (p.Arg677His) rs35227432 0.00389
NM_004369.4(COL6A3):c.6211-3C>T rs139622600 0.00387
NM_004369.4(COL6A3):c.6972C>T (p.Asn2324=) rs113961575 0.00363
NM_004369.4(COL6A3):c.1638C>T (p.Ala546=) rs112040282 0.00360
NM_004369.4(COL6A3):c.3087C>T (p.Asp1029=) rs113066678 0.00353
NM_004369.4(COL6A3):c.6879+33C>T rs78071799 0.00254
NM_004369.4(COL6A3):c.7007C>T (p.Pro2336Leu) rs202092407 0.00096
NM_004369.4(COL6A3):c.1478T>C (p.Val493Ala) rs116794756 0.00030
NM_004369.4(COL6A3):c.34G>A (p.Val12Ile) rs137910388 0.00008
NM_004369.4(COL6A3):c.-30-210TATC[11] rs60589035
NM_004369.4(COL6A3):c.-30-210TATC[12] rs60589035
NM_004369.4(COL6A3):c.-30-210TATC[13] rs60589035
NM_004369.4(COL6A3):c.-30-210TATC[9] rs60589035
NM_004369.4(COL6A3):c.-30-235G>A rs56105400
NM_004369.4(COL6A3):c.-30-302CCTTC[3] rs140417880
NM_004369.4(COL6A3):c.1228G>A (p.Asp410Asn) rs35914491
NM_004369.4(COL6A3):c.2488G>T (p.Ala830Ser) rs77181645
NM_004369.4(COL6A3):c.6063+109del rs11287247
NM_004369.4(COL6A3):c.6063+13dup rs11385011
NM_004369.4(COL6A3):c.6064-170G>C rs72986142
NM_004369.4(COL6A3):c.6408+91C>T rs59437067
NM_004369.4(COL6A3):c.6691-282G>T rs11901326
NM_004369.4(COL6A3):c.6931-100G>T rs3790990
NM_004369.4(COL6A3):c.6966+105_6966+106del rs71905592
NM_004369.4(COL6A3):c.7093-283_7093-263del rs71893785
NM_004369.4(COL6A3):c.7669-231A>C rs10202434
NM_004369.4(COL6A3):c.8464+242C>T rs57074977
NM_004369.4(COL6A3):c.8491G>C (p.Asp2831His) rs36104025
NM_004369.4(COL6A3):c.8868TGC[3] (p.Ala2960del) rs35879189
NM_004369.4(COL6A3):c.8966-321G>C rs55820303

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