ClinVar Miner

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

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Total variants: 49
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HGVS dbSNP
NM_001849.3(COL6A2):c.1000-1G>T rs1555873358
NM_001849.3(COL6A2):c.1000-2A>C rs1555873356
NM_001849.3(COL6A2):c.1000-2_1000-1inv rs1555873357
NM_001849.3(COL6A2):c.1053+1G>A rs886043187
NM_001849.3(COL6A2):c.1053+1G>C rs886043187
NM_001849.3(COL6A2):c.1053+2del rs886044140
NM_001849.3(COL6A2):c.1054-2A>G rs886044023
NM_001849.3(COL6A2):c.1096C>T (p.Arg366Ter) rs387906609
NM_001849.3(COL6A2):c.1180-1G>C rs751409618
NM_001849.3(COL6A2):c.1396-11_1396-2del rs886044484
NM_001849.3(COL6A2):c.1396-1G>A rs1331260332
NM_001849.3(COL6A2):c.1458+1G>A rs886044526
NM_001849.3(COL6A2):c.1461del (p.Ser488fs) rs398123645
NM_001849.3(COL6A2):c.1522-1G>A rs398123646
NM_001849.3(COL6A2):c.1561C>T (p.Arg521Ter) rs773686174
NM_001849.3(COL6A2):c.1572+1G>A rs1057520717
NM_001849.3(COL6A2):c.1615C>T (p.Arg539Ter) rs749593004
NM_001849.3(COL6A2):c.1751del (p.Pro584fs) rs886044398
NM_001849.3(COL6A2):c.1770+1delG rs886044215
NM_001849.3(COL6A2):c.1861G>A (p.Asp621Asn) rs267606750
NM_001849.3(COL6A2):c.186dup (p.Thr63fs) rs886041439
NM_001849.3(COL6A2):c.1970-9G>A rs747900252
NM_001849.3(COL6A2):c.2284_2285del (p.Met762fs) rs778129335
NM_001849.3(COL6A2):c.2312dup (p.Asn771Lysfs) rs886043164
NM_001849.3(COL6A2):c.2422+1G>A rs113828929
NM_001849.3(COL6A2):c.244C>T (p.Gln82Ter) rs886041447
NM_001849.3(COL6A2):c.2455C>T (p.Gln819Ter) rs121912942
NM_001849.3(COL6A2):c.2515_2516del (p.Asp839fs) rs1064793394
NM_001849.3(COL6A2):c.2611G>A (p.Asp871Asn) rs387906610
NM_001849.3(COL6A2):c.265C>T (p.Gln89Ter) rs1555871390
NM_001849.3(COL6A2):c.736-2A>G rs1057518925
NM_001849.3(COL6A2):c.736-7_739del rs1555872143
NM_001849.3(COL6A2):c.785G>A (p.Gly262Asp) rs886042943
NM_001849.3(COL6A2):c.796_801+6delCAGAAGGTAAGA rs1555872200
NM_001849.3(COL6A2):c.801+1G>A rs794727715
NM_001849.3(COL6A2):c.801+1G>T rs794727715
NM_001849.3(COL6A2):c.802-2A>G rs886044399
NM_001849.3(COL6A2):c.812G>A (p.Gly271Asp) rs794727788
NM_001849.3(COL6A2):c.830del (p.Gly277fs) rs1555872819
NM_001849.3(COL6A2):c.855+1G>A rs1057517988
NM_001849.3(COL6A2):c.855+1G>C rs1057517988
NM_001849.3(COL6A2):c.855+2T>G rs113525292
NM_001849.3(COL6A2):c.856-2A>C rs886044466
NM_001849.3(COL6A2):c.865G>T (p.Gly289Cys) rs886043270
NM_001849.3(COL6A2):c.875G>T (p.Gly292Val) rs794727855
NM_001849.3(COL6A2):c.883G>A (p.Gly295Arg) rs1555872873
NM_001849.3(COL6A2):c.900+1G>A rs886044261
NM_001849.3(COL6A2):c.900+1G>C rs886044261
NM_001849.3(COL6A2):c.901G>A (p.Gly301Ser) rs886042705

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