ClinVar Miner

List of variants in gene COL6A2 reported as likely pathogenic for not provided

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Total variants: 30
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HGVS dbSNP
NM_001849.3(COL6A2):c.1037_1038delinsTT (p.Gly346Val) rs1568930426
NM_001849.3(COL6A2):c.1063G>T (p.Gly355Cys) rs794727061
NM_001849.3(COL6A2):c.1162G>A (p.Gly388Arg) rs727503883
NM_001849.3(COL6A2):c.1288G>A (p.Gly430Ser) rs765430501
NM_001849.3(COL6A2):c.1461del (p.Ser488fs) rs398123645
NM_001849.3(COL6A2):c.1561C>T (p.Arg521Ter) rs773686174
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.2133C>G (p.Tyr711Ter) rs531816975
NM_001849.3(COL6A2):c.2539_2540dup (p.Gln847fs) rs1413628703
NM_001849.3(COL6A2):c.2593_2608dup (p.Asp870fs) rs863224243
NM_001849.3(COL6A2):c.2627G>A (p.Arg876His) rs1012567148
NM_001849.3(COL6A2):c.2646del (p.Phe882fs) rs1555877282
NM_001849.3(COL6A2):c.2894G>C (p.Arg965Pro) rs201854898
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.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.893G>C (p.Gly298Ala) rs1487638242
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.955-1G>A rs886044265
NM_058174.3(COL6A2):c.1117-35_1118dup rs1555873698
NM_058174.3(COL6A2):c.1770+1del rs886044215

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