ClinVar Miner

List of variants in gene COL6A2 reported as likely pathogenic

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Total variants: 55
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HGVS dbSNP
NM_001849.3(COL6A2):c.1000-13_1030del rs1555873353
NM_001849.3(COL6A2):c.1000-2A>C rs1555873356
NM_001849.3(COL6A2):c.1037_1038delinsTT (p.Gly346Val) rs1568930426
NM_001849.3(COL6A2):c.1054-2A>G rs886044023
NM_001849.3(COL6A2):c.1055del rs1555873507
NM_001849.3(COL6A2):c.1063G>T (p.Gly355Cys) rs794727061
NM_001849.3(COL6A2):c.115+2T>C rs770842374
NM_001849.3(COL6A2):c.1162G>A (p.Gly388Arg) rs727503883
NM_001849.3(COL6A2):c.1180-2A>G
NM_001849.3(COL6A2):c.1288G>A (p.Gly430Ser) rs765430501
NM_001849.3(COL6A2):c.1461del (p.Ser488fs) rs398123645
NM_001849.3(COL6A2):c.1466G>A (p.Arg489Gln) rs61735828
NM_001849.3(COL6A2):c.1561C>T (p.Arg521Ter) rs773686174
NM_001849.3(COL6A2):c.1806C>A (p.Cys602Ter) rs751987553
NM_001849.3(COL6A2):c.1970-9G>A rs747900252
NM_001849.3(COL6A2):c.1997G>A (p.Ser666Asn) rs786205642
NM_001849.3(COL6A2):c.2038_2039delinsA (p.Arg680fs) rs1064795685
NM_001849.3(COL6A2):c.2040dup (p.Ile681fs) rs886039905
NM_001849.3(COL6A2):c.2096G>A (p.Gly699Asp) rs863224861
NM_001849.3(COL6A2):c.2133C>G (p.Tyr711Ter) rs531816975
NM_001849.3(COL6A2):c.2329T>C (p.Cys777Arg) rs267606747
NM_001849.3(COL6A2):c.2488C>T (p.Arg830Trp) rs373072443
NM_001849.3(COL6A2):c.2489G>A (p.Arg830Gln) rs139552940
NM_001849.3(COL6A2):c.2539_2540dup (p.Gln847fs) rs1413628703
NM_001849.3(COL6A2):c.2572C>T (p.Gln858Ter) rs1555877252
NM_001849.3(COL6A2):c.2593_2608dup (p.Asp870fs) rs863224243
NM_001849.3(COL6A2):c.2611G>A (p.Asp871Asn) rs387906610
NM_001849.3(COL6A2):c.2627G>A (p.Arg876His) rs1012567148
NM_001849.3(COL6A2):c.2633C>T (p.Ala878Val) rs774521989
NM_001849.3(COL6A2):c.2646del (p.Phe882fs) rs1555877282
NM_001849.3(COL6A2):c.2891T>C (p.Met964Thr) rs1427750922
NM_001849.3(COL6A2):c.2894G>C (p.Arg965Pro) rs201854898
NM_001849.3(COL6A2):c.735+9_784del
NM_001849.3(COL6A2):c.736-2A>G rs1057518925
NM_001849.3(COL6A2):c.801+1G>A rs794727715
NM_001849.3(COL6A2):c.803G>A (p.Gly268Asp) rs397515333
NM_001849.3(COL6A2):c.838G>A (p.Gly280Ser) rs886043323
NM_001849.3(COL6A2):c.838G>C (p.Gly280Arg) rs886043323
NM_001849.3(COL6A2):c.839G>A (p.Gly280Asp) rs1568928804
NM_001849.3(COL6A2):c.848G>A (p.Gly283Glu) rs886044088
NM_001849.3(COL6A2):c.855+1G>C rs1057517988
NM_001849.3(COL6A2):c.857G>A (p.Gly286Glu) rs727502827
NM_001849.3(COL6A2):c.857G>T (p.Gly286Val) rs727502827
NM_001849.3(COL6A2):c.866G>A (p.Gly289Asp) rs886043554
NM_001849.3(COL6A2):c.866G>T (p.Gly289Val)
NM_001849.3(COL6A2):c.892G>A (p.Gly298Arg) rs797045478
NM_001849.3(COL6A2):c.893G>C (p.Gly298Ala) rs1487638242
NM_001849.3(COL6A2):c.911G>T (p.Gly304Val) rs727502832
NM_001849.3(COL6A2):c.920G>T (p.Gly307Val) rs886042541
NM_001849.3(COL6A2):c.94G>T (p.Glu32Ter) rs547648292
NM_001849.3(COL6A2):c.954G>T (p.Lys318Asn) rs878854362
NM_001849.3(COL6A2):c.955-1G>A rs886044265
NM_001849.3(COL6A2):c.955-3_955-1delinsAA rs1568929639
NM_058174.3(COL6A2):c.1117-35_1118dup rs1555873698
NM_058174.3(COL6A2):c.1770+1del rs886044215

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