ClinVar Miner

List of variants in gene COL6A3 reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 209
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HGVS dbSNP gnomAD frequency
NM_004369.4(COL6A3):c.8189C>A (p.Ala2730Asp) rs138466455 0.00110
NM_004369.4(COL6A3):c.5610C>A (p.Ser1870Arg) rs113153193 0.00075
NM_004369.4(COL6A3):c.775G>A (p.Ala259Thr) rs141609058 0.00074
NM_004369.4(COL6A3):c.1214T>C (p.Phe405Ser) rs114549120 0.00071
NM_004369.4(COL6A3):c.3223C>T (p.Arg1075Trp) rs201962257 0.00061
NM_004369.4(COL6A3):c.7685T>C (p.Val2562Ala) rs143631346 0.00058
NM_004369.4(COL6A3):c.3419C>T (p.Thr1140Met) rs201131900 0.00041
NM_004369.4(COL6A3):c.4888C>T (p.Pro1630Ser) rs145560772 0.00041
NM_004369.4(COL6A3):c.3755G>A (p.Arg1252His) rs201314411 0.00036
NM_004369.4(COL6A3):c.5833G>C (p.Val1945Leu) rs113332380 0.00029
NM_004369.4(COL6A3):c.1150G>A (p.Ala384Thr) rs374267444 0.00028
NM_004369.4(COL6A3):c.3445C>T (p.Arg1149Trp) rs113360085 0.00027
NM_004369.4(COL6A3):c.8966-3C>A rs190667494 0.00026
NM_004369.4(COL6A3):c.1538G>A (p.Arg513Gln) rs139498556 0.00024
NM_004369.4(COL6A3):c.7513G>A (p.Gly2505Arg) rs545819982 0.00024
NM_004369.4(COL6A3):c.8978G>A (p.Arg2993His) rs201888442 0.00024
NM_004369.4(COL6A3):c.1373T>A (p.Leu458Gln) rs374134397 0.00021
NM_004369.4(COL6A3):c.2231C>T (p.Pro744Leu) rs199504304 0.00021
NM_004369.4(COL6A3):c.3556G>A (p.Val1186Met) rs144976132 0.00019
NM_004369.4(COL6A3):c.9344C>T (p.Pro3115Leu) rs138109666 0.00018
NM_004369.4(COL6A3):c.1867C>T (p.Pro623Ser) rs372022185 0.00016
NM_004369.4(COL6A3):c.1975C>T (p.Arg659Cys) rs146291186 0.00016
NM_004369.4(COL6A3):c.3190C>T (p.Arg1064Trp) rs369810455 0.00016
NM_004369.4(COL6A3):c.3331G>A (p.Ala1111Thr) rs151021451 0.00016
NM_004369.4(COL6A3):c.6749C>T (p.Pro2250Leu) rs140728855 0.00015
NM_004369.4(COL6A3):c.2195C>T (p.Thr732Met) rs370719148 0.00014
NM_004369.4(COL6A3):c.6769G>A (p.Ala2257Thr) rs372154635 0.00014
NM_004369.4(COL6A3):c.6966+4A>C rs373940717 0.00014
NM_004369.4(COL6A3):c.6868C>T (p.Arg2290Cys) rs116608946 0.00013
NM_004369.4(COL6A3):c.839G>T (p.Arg280Leu) rs370246962 0.00013
NM_004369.4(COL6A3):c.5179C>T (p.Arg1727Trp) rs143074017 0.00012
NM_004369.4(COL6A3):c.5825C>T (p.Pro1942Leu) rs150694150 0.00012
NM_004369.4(COL6A3):c.2305G>A (p.Ala769Thr) rs142719863 0.00010
NM_004369.4(COL6A3):c.2444C>A (p.Pro815His) rs199601240 0.00009
NM_004369.4(COL6A3):c.3754C>T (p.Arg1252Cys) rs563530370 0.00009
NM_004369.4(COL6A3):c.466G>T (p.Asp156Tyr) rs199632952 0.00009
NM_004369.4(COL6A3):c.5743C>T (p.Arg1915Trp) rs201938007 0.00009
NM_004369.4(COL6A3):c.4595C>T (p.Ala1532Val) rs372247515 0.00008
NM_004369.4(COL6A3):c.8236G>A (p.Glu2746Lys) rs111395856 0.00008
NM_004369.4(COL6A3):c.2864G>A (p.Arg955His) rs112172548 0.00007
NM_004369.4(COL6A3):c.3598G>T (p.Val1200Phe) rs779028054 0.00007
NM_004369.4(COL6A3):c.707C>T (p.Thr236Ile) rs886044270 0.00007
NM_004369.4(COL6A3):c.2567G>A (p.Arg856His) rs147897225 0.00006
NM_004369.4(COL6A3):c.461C>T (p.Ser154Leu) rs147701785 0.00006
NM_004369.4(COL6A3):c.4894C>T (p.Arg1632Trp) rs113755498 0.00006
NM_004369.4(COL6A3):c.5635G>A (p.Gly1879Ser) rs760603443 0.00006
NM_004369.4(COL6A3):c.6470C>T (p.Pro2157Leu) rs372281922 0.00006
NM_004369.4(COL6A3):c.7331G>A (p.Arg2444Gln) rs895701604 0.00006
NM_004369.4(COL6A3):c.9116C>T (p.Thr3039Met) rs116655315 0.00006
NM_004369.4(COL6A3):c.3901C>T (p.Arg1301Trp) rs150430813 0.00005
NM_004369.4(COL6A3):c.3932A>G (p.Asn1311Ser) rs200592625 0.00005
NM_004369.4(COL6A3):c.4504G>A (p.Ala1502Thr) rs201722265 0.00005
NM_004369.4(COL6A3):c.9217A>G (p.Ser3073Gly) rs199680718 0.00005
NM_004369.4(COL6A3):c.1385A>G (p.Asn462Ser) rs200250810 0.00004
NM_004369.4(COL6A3):c.2066C>T (p.Thr689Met) rs762162177 0.00004
NM_004369.4(COL6A3):c.2162C>G (p.Ser721Ter) rs377632042 0.00004
NM_004369.4(COL6A3):c.2303G>A (p.Arg768His) rs575412915 0.00004
NM_004369.4(COL6A3):c.254G>A (p.Gly85Glu) rs369814614 0.00004
NM_004369.4(COL6A3):c.3196C>T (p.Arg1066Cys) rs774406266 0.00004
NM_004369.4(COL6A3):c.4121A>T (p.Asp1374Val) rs766488017 0.00004
NM_004369.4(COL6A3):c.4432G>A (p.Val1478Met) rs374493032 0.00004
NM_004369.4(COL6A3):c.4742C>G (p.Thr1581Arg) rs1156524068 0.00004
NM_004369.4(COL6A3):c.5393G>A (p.Arg1798His) rs371441617 0.00004
NM_004369.4(COL6A3):c.5869G>A (p.Gly1957Arg) rs554219567 0.00004
NM_004369.4(COL6A3):c.6452T>C (p.Val2151Ala) rs540633944 0.00004
NM_004369.4(COL6A3):c.7607C>T (p.Ala2536Val) rs769072338 0.00004
NM_004369.4(COL6A3):c.8231C>T (p.Thr2744Met) rs373680762 0.00004
NM_004369.4(COL6A3):c.1087C>T (p.Arg363Cys) rs759280111 0.00003
NM_004369.4(COL6A3):c.1751A>G (p.Asn584Ser) rs375285237 0.00003
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter) rs398124119 0.00003
NM_004369.4(COL6A3):c.2161T>C (p.Ser721Pro) rs146794191 0.00003
NM_004369.4(COL6A3):c.2269G>A (p.Asp757Asn) rs544229002 0.00003
NM_004369.4(COL6A3):c.249C>T (p.Phe83=) rs758434537 0.00003
NM_004369.4(COL6A3):c.3472G>A (p.Gly1158Ser) rs753056634 0.00003
NM_004369.4(COL6A3):c.6451G>C (p.Val2151Leu) rs768565928 0.00003
NM_004369.4(COL6A3):c.686C>T (p.Thr229Met) rs141586922 0.00003
NM_004369.4(COL6A3):c.7192G>A (p.Val2398Ile) rs375640580 0.00003
NM_004369.4(COL6A3):c.764G>A (p.Ser255Asn) rs755138368 0.00003
NM_004369.4(COL6A3):c.8168T>C (p.Ile2723Thr) rs373108028 0.00003
NM_004369.4(COL6A3):c.8377G>A (p.Val2793Ile) rs569907876 0.00003
NM_004369.4(COL6A3):c.8744C>T (p.Ala2915Val) rs751532649 0.00003
NM_004369.4(COL6A3):c.1216C>T (p.Arg406Cys) rs112817175 0.00002
NM_004369.4(COL6A3):c.1571A>G (p.Tyr524Cys) rs147546808 0.00002
NM_004369.4(COL6A3):c.4765G>A (p.Asp1589Asn) rs904372024 0.00002
NM_004369.4(COL6A3):c.5395G>A (p.Val1799Met) rs768420468 0.00002
NM_004369.4(COL6A3):c.6394A>T (p.Asn2132Tyr) rs750889657 0.00002
NM_004369.4(COL6A3):c.6408G>C (p.Arg2136Ser) rs781675126 0.00002
NM_004369.4(COL6A3):c.7259G>A (p.Arg2420Gln) rs772077690 0.00002
NM_004369.4(COL6A3):c.8393T>C (p.Val2798Ala) rs749169391 0.00002
NM_004369.4(COL6A3):c.8596C>T (p.Pro2866Ser) rs764921677 0.00002
NM_004369.4(COL6A3):c.1006C>T (p.Arg336Trp) rs200720222 0.00001
NM_004369.4(COL6A3):c.1022G>A (p.Arg341His) rs140510298 0.00001
NM_004369.4(COL6A3):c.1057A>G (p.Ile353Val) rs2078187494 0.00001
NM_004369.4(COL6A3):c.1268C>T (p.Ala423Val) rs181264679 0.00001
NM_004369.4(COL6A3):c.1529C>T (p.Thr510Ile) rs555333405 0.00001
NM_004369.4(COL6A3):c.2411C>T (p.Ser804Phe) rs2077916897 0.00001
NM_004369.4(COL6A3):c.2732G>T (p.Gly911Val) rs149310819 0.00001
NM_004369.4(COL6A3):c.290G>A (p.Arg97His) rs201249839 0.00001
NM_004369.4(COL6A3):c.3220G>A (p.Asp1074Asn) rs778403814 0.00001
NM_004369.4(COL6A3):c.3272T>A (p.Val1091Asp) rs745854120 0.00001
NM_004369.4(COL6A3):c.3280G>A (p.Ala1094Thr) rs369460632 0.00001
NM_004369.4(COL6A3):c.3319A>G (p.Asn1107Asp) rs1574710031 0.00001
NM_004369.4(COL6A3):c.3549C>G (p.Asp1183Glu) rs762240306 0.00001
NM_004369.4(COL6A3):c.3668T>C (p.Leu1223Pro) rs772944531 0.00001
NM_004369.4(COL6A3):c.3809G>A (p.Arg1270Gln) rs1057518127 0.00001
NM_004369.4(COL6A3):c.409C>T (p.Arg137Trp) rs143819673 0.00001
NM_004369.4(COL6A3):c.415G>A (p.Gly139Ser) rs749386499 0.00001
NM_004369.4(COL6A3):c.4240G>C (p.Glu1414Gln) rs539986030 0.00001
NM_004369.4(COL6A3):c.4604G>A (p.Arg1535His) rs115765346 0.00001
NM_004369.4(COL6A3):c.4795T>C (p.Phe1599Leu) rs911848582 0.00001
NM_004369.4(COL6A3):c.4880C>A (p.Thr1627Asn) rs149261556 0.00001
NM_004369.4(COL6A3):c.503C>T (p.Ala168Val) rs757496683 0.00001
NM_004369.4(COL6A3):c.5092A>G (p.Thr1698Ala) rs762789220 0.00001
NM_004369.4(COL6A3):c.5234A>G (p.Gln1745Arg) rs756781502 0.00001
NM_004369.4(COL6A3):c.709+8C>T rs779535244 0.00001
NM_004369.4(COL6A3):c.7290T>G (p.Asn2430Lys) rs900113844 0.00001
NM_004369.4(COL6A3):c.8209A>C (p.Lys2737Gln) rs111764507 0.00001
NM_004369.4(COL6A3):c.8212A>T (p.Ile2738Phe) rs141344389 0.00001
NM_004369.4(COL6A3):c.8431C>T (p.Arg2811Cys) rs371361651 0.00001
NM_004369.4(COL6A3):c.8437G>A (p.Gly2813Arg) rs146131332 0.00001
NM_004369.4(COL6A3):c.8522G>A (p.Gly2841Glu) rs1296360526 0.00001
NM_004369.4(COL6A3):c.861C>G (p.Ser287Arg) rs756380512 0.00001
NM_004369.4(COL6A3):c.8798C>T (p.Pro2933Leu) rs373550111 0.00001
NM_004369.4(COL6A3):c.9284T>C (p.Ile3095Thr) rs1064796356 0.00001
NM_004369.4(COL6A3):c.1230C>A (p.Asp410Glu)
NM_004369.4(COL6A3):c.1275G>T (p.Arg425Ser) rs370549716
NM_004369.4(COL6A3):c.1439_1450del (p.Asp480_Gln483del)
NM_004369.4(COL6A3):c.1444A>C (p.Ile482Leu)
NM_004369.4(COL6A3):c.1537C>T (p.Arg513Trp) rs369379463
NM_004369.4(COL6A3):c.1729A>G (p.Ile577Val)
NM_004369.4(COL6A3):c.1791C>A (p.Phe597Leu) rs76576170
NM_004369.4(COL6A3):c.1795T>C (p.Ser599Pro)
NM_004369.4(COL6A3):c.1979A>C (p.Asp660Ala) rs1064797036
NM_004369.4(COL6A3):c.2042T>G (p.Val681Gly) rs753741086
NM_004369.4(COL6A3):c.2105T>C (p.Ile702Thr) rs141068214
NM_004369.4(COL6A3):c.2180A>C (p.Tyr727Ser) rs113393241
NM_004369.4(COL6A3):c.2339A>G (p.Gln780Arg) rs2106366752
NM_004369.4(COL6A3):c.2488G>A (p.Ala830Thr) rs77181645
NM_004369.4(COL6A3):c.2729C>T (p.Thr910Met) rs189356869
NM_004369.4(COL6A3):c.2774G>T (p.Arg925Met)
NM_004369.4(COL6A3):c.2932G>T (p.Ala978Ser) rs768292803
NM_004369.4(COL6A3):c.3059C>G (p.Ala1020Gly) rs779382813
NM_004369.4(COL6A3):c.3101T>C (p.Leu1034Pro) rs2106361745
NM_004369.4(COL6A3):c.3127_3129delinsAGT (p.Gly1043Ser)
NM_004369.4(COL6A3):c.3169A>T (p.Ser1057Cys) rs1553560705
NM_004369.4(COL6A3):c.3199G>A (p.Val1067Met) rs148175795
NM_004369.4(COL6A3):c.3475G>C (p.Gly1159Arg) rs146313030
NM_004369.4(COL6A3):c.3494T>A (p.Ile1165Asn)
NM_004369.4(COL6A3):c.3499A>T (p.Ile1167Phe) rs886042996
NM_004369.4(COL6A3):c.3626C>T (p.Thr1209Ile) rs780311080
NM_004369.4(COL6A3):c.3650_3651delinsTT (p.Gln1217Leu)
NM_004369.4(COL6A3):c.3806C>T (p.Thr1269Ile) rs1064796775
NM_004369.4(COL6A3):c.3844G>A (p.Val1282Met) rs535661345
NM_004369.4(COL6A3):c.3983T>C (p.Leu1328Pro) rs1202069531
NM_004369.4(COL6A3):c.4085T>C (p.Phe1362Ser) rs745420792
NM_004369.4(COL6A3):c.4091T>C (p.Val1364Ala)
NM_004369.4(COL6A3):c.4424T>C (p.Val1475Ala) rs1216842831
NM_004369.4(COL6A3):c.4466A>G (p.Tyr1489Cys)
NM_004369.4(COL6A3):c.4510C>T (p.Arg1504Trp) rs144223596
NM_004369.4(COL6A3):c.4529G>T (p.Gly1510Val)
NM_004369.4(COL6A3):c.4555G>A (p.Ala1519Thr) rs2077618678
NM_004369.4(COL6A3):c.4678G>A (p.Ala1560Thr) rs371631320
NM_004369.4(COL6A3):c.479T>C (p.Leu160Pro) rs2106388155
NM_004369.4(COL6A3):c.4817A>G (p.Glu1606Gly) rs1064796167
NM_004369.4(COL6A3):c.4880C>T (p.Thr1627Ile) rs149261556
NM_004369.4(COL6A3):c.5000A>G (p.Asp1667Gly)
NM_004369.4(COL6A3):c.5359G>A (p.Gly1787Arg) rs2106350453
NM_004369.4(COL6A3):c.5479G>A (p.Gly1827Ser) rs1440752292
NM_004369.4(COL6A3):c.5550T>G (p.Asn1850Lys) rs1482232293
NM_004369.4(COL6A3):c.5678C>G (p.Thr1893Arg) rs143389941
NM_004369.4(COL6A3):c.5833G>A (p.Val1945Met) rs113332380
NM_004369.4(COL6A3):c.5879C>T (p.Ala1960Val)
NM_004369.4(COL6A3):c.5893G>A (p.Ala1965Thr) rs1364239110
NM_004369.4(COL6A3):c.5951G>A (p.Arg1984Gln) rs1362987398
NM_004369.4(COL6A3):c.6092G>A (p.Gly2031Glu)
NM_004369.4(COL6A3):c.6156G>C (p.Lys2052Asn) rs398124125
NM_004369.4(COL6A3):c.6571C>T (p.Pro2191Ser) rs370056446
NM_004369.4(COL6A3):c.6617C>G (p.Pro2206Arg) rs1451371831
NM_004369.4(COL6A3):c.6739A>G (p.Ile2247Val) rs1473692842
NM_004369.4(COL6A3):c.6794G>C (p.Arg2265Thr)
NM_004369.4(COL6A3):c.7069G>A (p.Asp2357Asn)
NM_004369.4(COL6A3):c.7175-6C>G rs199723531
NM_004369.4(COL6A3):c.7192G>C (p.Val2398Leu)
NM_004369.4(COL6A3):c.7435G>A (p.Ala2479Thr)
NM_004369.4(COL6A3):c.7616C>T (p.Thr2539Ile) rs2077055134
NM_004369.4(COL6A3):c.7655T>A (p.Ile2552Asn)
NM_004369.4(COL6A3):c.7843G>A (p.Asp2615Asn) rs145884404
NM_004369.4(COL6A3):c.7936G>C (p.Val2646Leu) rs1419214464
NM_004369.4(COL6A3):c.7949A>G (p.Asp2650Gly) rs1553546590
NM_004369.4(COL6A3):c.8003A>G (p.Gln2668Arg) rs2106319884
NM_004369.4(COL6A3):c.8218G>C (p.Val2740Leu) rs754870088
NM_004369.4(COL6A3):c.8278C>G (p.Leu2760Val)
NM_004369.4(COL6A3):c.8291G>A (p.Cys2764Tyr)
NM_004369.4(COL6A3):c.8308G>A (p.Val2770Met) rs886044644
NM_004369.4(COL6A3):c.8327G>A (p.Arg2776Lys)
NM_004369.4(COL6A3):c.8337C>A (p.Asn2779Lys) rs1338421880
NM_004369.4(COL6A3):c.8491G>T (p.Asp2831Tyr)
NM_004369.4(COL6A3):c.8506T>C (p.Cys2836Arg) rs1553545646
NM_004369.4(COL6A3):c.8626C>G (p.Pro2876Ala)
NM_004369.4(COL6A3):c.8634_8651del (p.2875KPVTTT[1]) rs780678900
NM_004369.4(COL6A3):c.8782G>A (p.Ala2928Thr)
NM_004369.4(COL6A3):c.8834T>A (p.Val2945Glu) rs2106314327
NM_004369.4(COL6A3):c.8868TGC[5] (p.Ala2960dup) rs35879189
NM_004369.4(COL6A3):c.8875G>T (p.Ala2959Ser) rs774645319
NM_004369.4(COL6A3):c.8930C>T (p.Pro2977Leu) rs1162901275
NM_004369.4(COL6A3):c.8945C>T (p.Pro2982Leu) rs1700531524
NM_004369.4(COL6A3):c.898_900del (p.Ser300del) rs554176183
NM_004369.4(COL6A3):c.913G>A (p.Val305Ile) rs564041158
NM_004369.4(COL6A3):c.9330T>A (p.Asp3110Glu) rs1057524148

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