ClinVar Miner

List of variants in gene COL6A2 reported as likely pathogenic

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Gene type:
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Total variants: 127
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HGVS dbSNP gnomAD frequency
NM_001849.4(COL6A2):c.1466G>A (p.Arg489Gln) rs61735828 0.00627
NM_001849.4(COL6A2):c.1970-3C>A rs201879417 0.00118
NM_001849.4(COL6A2):c.511G>A (p.Gly171Arg) rs200710788 0.00116
NM_001849.4(COL6A2):c.2585G>A (p.Arg862Gln) rs367658663 0.00028
NM_001849.4(COL6A2):c.759A>G (p.Glu253=) rs140404854 0.00020
NM_001849.4(COL6A2):c.1970-9G>A rs747900252 0.00008
NM_001849.4(COL6A2):c.1360G>A (p.Gly454Ser) rs1035908319 0.00005
NM_001849.4(COL6A2):c.2633C>T (p.Ala878Val) rs774521989 0.00005
NM_001849.4(COL6A2):c.1288G>A (p.Gly430Ser) rs765430501 0.00004
NM_001849.4(COL6A2):c.2489G>A (p.Arg830Gln) rs139552940 0.00004
NM_001849.4(COL6A2):c.2627G>A (p.Arg876His) rs1012567148 0.00004
NM_001849.4(COL6A2):c.2488C>T (p.Arg830Trp) rs373072443 0.00003
NM_001849.4(COL6A2):c.115+2T>C rs770842374 0.00002
NM_001849.4(COL6A2):c.1162G>A (p.Gly388Arg) rs727503883 0.00001
NM_001849.4(COL6A2):c.1396-1G>A rs1331260332 0.00001
NM_001849.4(COL6A2):c.1591G>A (p.Gly531Ser) rs778364096 0.00001
NM_001849.4(COL6A2):c.1615C>T (p.Arg539Ter) rs749593004 0.00001
NM_001849.4(COL6A2):c.2539_2540dup (p.Gln847fs) rs1413628703 0.00001
NM_001849.4(COL6A2):c.2611G>A (p.Asp871Asn) rs387906610 0.00001
NM_001849.4(COL6A2):c.2809C>T (p.Arg937Trp) rs755352246 0.00001
NM_001849.4(COL6A2):c.287A>G (p.Tyr96Cys) rs2078408746 0.00001
NM_001849.4(COL6A2):c.2891T>C (p.Met964Thr) rs1427750922 0.00001
NM_001849.4(COL6A2):c.982G>A (p.Gly328Arg) rs779867653 0.00001
GRCh37/hg19 21q22.3(chr21:47533922-47535967)x1
GRCh37/hg19 21q22.3(chr21:47535923-47536591)x1
NC_000021.8:g.(?_47542769)_(47546475_?)dup
NC_000021.8:g.(?_47545206)_(47546374_?)del
NM_001849.3(COL6A2):c.2312dup (p.Asn771Lysfs) rs886043164
NM_001849.4(COL6A2):c.-27-3C>G rs1288520983
NM_001849.4(COL6A2):c.1000-13_1030del rs1555873353
NM_001849.4(COL6A2):c.1021C>A (p.Pro341Thr)
NM_001849.4(COL6A2):c.1037_1038delinsTT (p.Gly346Val) rs1568930426
NM_001849.4(COL6A2):c.1053+1G>C rs886043187
NM_001849.4(COL6A2):c.1054-2A>G rs886044023
NM_001849.4(COL6A2):c.1055G>A (p.Gly352Asp) rs2123632697
NM_001849.4(COL6A2):c.1055delG rs1555873507
NM_001849.4(COL6A2):c.1063G>T (p.Gly355Cys) rs794727061
NM_001849.4(COL6A2):c.1064G>T (p.Gly355Val)
NM_001849.4(COL6A2):c.1072G>T (p.Gly358Trp) rs2078499825
NM_001849.4(COL6A2):c.1117-35_1118dup rs1555873698
NM_001849.4(COL6A2):c.111C>A (p.Cys37Ter) rs986393872
NM_001849.4(COL6A2):c.1135G>A (p.Gly379Arg) rs2078513383
NM_001849.4(COL6A2):c.115+2_115+8del rs1407260029
NM_001849.4(COL6A2):c.1179+1G>A rs2078514224
NM_001849.4(COL6A2):c.1179+1G>T
NM_001849.4(COL6A2):c.1180-1G>A
NM_001849.4(COL6A2):c.1180-2A>G rs1601232289
NM_001849.4(COL6A2):c.1269_1270insCATCATCCCTCTACATTTTTTAACCAAATCAACAACAACCTATTTAGCTGTTCCCCAACCTTTTCCTCCGACAGCCG (p.Gly424fs)
NM_001849.4(COL6A2):c.1275_1282del (p.Arg426fs)
NM_001849.4(COL6A2):c.1382dup (p.Asn461fs)
NM_001849.4(COL6A2):c.1458+1G>A rs886044526
NM_001849.4(COL6A2):c.1459-2_1459-1del
NM_001849.4(COL6A2):c.1521+1G>A rs2123646873
NM_001849.4(COL6A2):c.1522-1G>C
NM_001849.4(COL6A2):c.1572+1G>A rs1057520717
NM_001849.4(COL6A2):c.1651AAAGGAGAG[1] (p.551KGE[1]) rs773493556
NM_001849.4(COL6A2):c.1671+1G>T
NM_001849.4(COL6A2):c.1770+1G>A rs752803039
NM_001849.4(COL6A2):c.1770+1del rs886044215
NM_001849.4(COL6A2):c.1770+2T>C
NM_001849.4(COL6A2):c.1799dup (p.Thr601fs) rs2123660828
NM_001849.4(COL6A2):c.1806C>A (p.Cys602Ter) rs751987553
NM_001849.4(COL6A2):c.1817-2A>G rs111697581
NM_001849.4(COL6A2):c.1817-3_1817-2del rs1491048605
NM_001849.4(COL6A2):c.1861G>A (p.Asp621Asn) rs267606750
NM_001849.4(COL6A2):c.1861G>C (p.Asp621His) rs267606750
NM_001849.4(COL6A2):c.1868C>T (p.Ser623Phe) rs2123661865
NM_001849.4(COL6A2):c.1969+1G>T
NM_001849.4(COL6A2):c.1997G>A (p.Ser666Asn) rs786205642
NM_001849.4(COL6A2):c.2038_2039delinsA (p.Arg680fs) rs1064795685
NM_001849.4(COL6A2):c.2040dup (p.Ile681fs) rs886039905
NM_001849.4(COL6A2):c.2093C>T (p.Ala698Val) rs1085307668
NM_001849.4(COL6A2):c.2096G>A (p.Gly699Asp) rs863224861
NM_001849.4(COL6A2):c.2133C>G (p.Tyr711Ter) rs531816975
NM_001849.4(COL6A2):c.2192C>T (p.Thr731Met) rs794727419
NM_001849.4(COL6A2):c.2206_2208delinsCA (p.Asp736fs)
NM_001849.4(COL6A2):c.2218_2236delinsCCTCGGGT (p.Asp740fs)
NM_001849.4(COL6A2):c.2220_2222del (p.Asp741del) rs753220080
NM_001849.4(COL6A2):c.2254_2255del (p.Val752fs)
NM_001849.4(COL6A2):c.2329T>C (p.Cys777Arg) rs267606747
NM_001849.4(COL6A2):c.2593_2608dup (p.Asp870fs) rs1555877258
NM_001849.4(COL6A2):c.2638_2656dup (p.Gly886fs)
NM_001849.4(COL6A2):c.2646del (p.Phe882fs) rs1555877282
NM_001849.4(COL6A2):c.2875G>A (p.Glu959Lys) rs150168522
NM_001849.4(COL6A2):c.2894G>C (p.Arg965Pro) rs201854898
NM_001849.4(COL6A2):c.3006_3007insTC (p.Asp1003fs)
NM_001849.4(COL6A2):c.3058T>C (p.Ter1020Gln) rs886044576
NM_001849.4(COL6A2):c.403G>A (p.Asp135Asn) rs983938730
NM_001849.4(COL6A2):c.543_735+396del rs2078415602
NM_001849.4(COL6A2):c.735+9_784del
NM_001849.4(COL6A2):c.736-2A>G rs1057518925
NM_001849.4(COL6A2):c.784G>T (p.Gly262Cys) rs2123620765
NM_001849.4(COL6A2):c.785G>T (p.Gly262Val) rs886042943
NM_001849.4(COL6A2):c.801G>A (p.Lys267=) rs2078439012
NM_001849.4(COL6A2):c.802-2A>G rs886044399
NM_001849.4(COL6A2):c.802G>C (p.Gly268Arg) rs2123625485
NM_001849.4(COL6A2):c.803G>A (p.Gly268Asp) rs397515333
NM_001849.4(COL6A2):c.803G>T (p.Gly268Val) rs397515333
NM_001849.4(COL6A2):c.838G>A (p.Gly280Ser) rs886043323
NM_001849.4(COL6A2):c.838G>C (p.Gly280Arg) rs886043323
NM_001849.4(COL6A2):c.848G>A (p.Gly283Glu) rs886044088
NM_001849.4(COL6A2):c.848G>T (p.Gly283Val) rs886044088
NM_001849.4(COL6A2):c.855+1G>C rs1057517988
NM_001849.4(COL6A2):c.855+1G>T rs1057517988
NM_001849.4(COL6A2):c.856G>A (p.Gly286Arg) rs2123626018
NM_001849.4(COL6A2):c.857G>A (p.Gly286Glu) rs727502827
NM_001849.4(COL6A2):c.857G>T (p.Gly286Val) rs727502827
NM_001849.4(COL6A2):c.866G>A (p.Gly289Asp) rs886043554
NM_001849.4(COL6A2):c.866G>T (p.Gly289Val) rs886043554
NM_001849.4(COL6A2):c.883G>A (p.Gly295Arg) rs1555872873
NM_001849.4(COL6A2):c.892G>A (p.Gly298Arg) rs797045478
NM_001849.4(COL6A2):c.893G>C (p.Gly298Ala) rs1487638242
NM_001849.4(COL6A2):c.893G>T (p.Gly298Val) rs1487638242
NM_001849.4(COL6A2):c.8_21dup (p.Val8fs)
NM_001849.4(COL6A2):c.901-3C>G rs112317259
NM_001849.4(COL6A2):c.911G>T (p.Gly304Val) rs727502832
NM_001849.4(COL6A2):c.920G>T (p.Gly307Val) rs886042541
NM_001849.4(COL6A2):c.927+5G>A
NM_001849.4(COL6A2):c.928-2A>G rs1440070681
NM_001849.4(COL6A2):c.94G>T (p.Glu32Ter) rs547648292
NM_001849.4(COL6A2):c.954+1G>C rs2123628251
NM_001849.4(COL6A2):c.954G>A (p.Lys318=) rs878854362
NM_001849.4(COL6A2):c.954G>T (p.Lys318Asn) rs878854362
NM_001849.4(COL6A2):c.955-1G>A rs886044265
NM_001849.4(COL6A2):c.955-3_955-1delinsAA rs1568929639
NM_001849.4(COL6A2):c.963del (p.Gly322fs)
NM_001849.4(COL6A2):c.999+9_1053+32del rs2078478648

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