ClinVar Miner

List of variants reported as pathogenic for Bethlem myopathy 1

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 72
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HGVS dbSNP
COL6A3, IVS15DS, GT-TC, +1
NC_000021.8:g.(?_47401745)_(47552486_?)del
NC_000021.8:g.(?_47408978)_(47409071_?)del
NC_000021.8:g.(?_47531371)_(47541057_?)del
NC_000021.8:g.(?_47531391)_(47541037_?)del
NM_001848.2(COL6A1):c.1003-1G>T
NM_001848.2(COL6A1):c.1003-2A>C
NM_001848.2(COL6A1):c.1003-2del rs1556425835
NM_001848.2(COL6A1):c.1003_1056del54 rs398123631
NM_001848.2(COL6A1):c.1022G>A (p.Gly341Asp) rs121912935
NM_001848.2(COL6A1):c.1022G>T (p.Gly341Val) rs121912935
NM_001848.2(COL6A1):c.1056+2T>C rs797044456
NM_001848.2(COL6A1):c.148del (p.Ala49_Leu50insTer) rs1556423728
NM_001848.2(COL6A1):c.1577G>T (p.Gly526Val) rs121912934
NM_001848.2(COL6A1):c.2431_2434+36del rs759918870
NM_001848.2(COL6A1):c.362A>G (p.Lys121Arg) rs121912936
NM_001848.2(COL6A1):c.428+1G>A rs1569517717
NM_001848.2(COL6A1):c.58C>T (p.Gln20Ter)
NM_001848.2(COL6A1):c.717+4A>G rs762867111
NM_001848.2(COL6A1):c.814G>C (p.Gly272Arg)
NM_001848.2(COL6A1):c.823G>T (p.Gly275Trp) rs1556425467
NM_001848.2(COL6A1):c.850G>A (p.Gly284Arg) rs121912938
NM_001848.2(COL6A1):c.868G>A (p.Gly290Arg) rs121912939
NM_001848.2(COL6A1):c.868G>T (p.Gly290Trp) rs121912939
NM_001848.2(COL6A1):c.877G>A (p.Gly293Arg) rs398123643
NM_001848.2(COL6A1):c.887G>T (p.Gly296Val)
NM_001848.2(COL6A1):c.905G>A (p.Gly302Glu) rs1556425566
NM_001848.2(COL6A1):c.930+189C>T rs1556425596
NM_001848.2(COL6A1):c.931-1G>A
NM_001848.2(COL6A1):c.931-1G>C rs886042354
NM_001849.3(COL6A2):c.1000-2A>G rs1555873356
NM_001849.3(COL6A2):c.1059del (p.Asp354fs) rs1555873508
NM_001849.3(COL6A2):c.1096C>T (p.Arg366Ter) rs387906609
NM_001849.3(COL6A2):c.115+2T>C rs770842374
NM_001849.3(COL6A2):c.1294A>T (p.Lys432Ter)
NM_001849.3(COL6A2):c.1402C>T (p.Arg468Ter)
NM_001849.3(COL6A2):c.1459-2A>G rs749974929
NM_001849.3(COL6A2):c.1496G>A (p.Gly499Glu) rs886042332
NM_001849.3(COL6A2):c.1751del (p.Pro584fs) rs886044398
NM_001849.3(COL6A2):c.1861G>A (p.Asp621Asn) rs267606750
NM_001849.3(COL6A2):c.1970-9G>A rs747900252
NM_001849.3(COL6A2):c.2002G>T (p.Glu668Ter) rs138948335
NM_001849.3(COL6A2):c.2795C>T (p.Pro932Leu) rs117725825
NM_001849.3(COL6A2):c.641_645del (p.Asn214fs) rs1375040481
NM_001849.3(COL6A2):c.736-1G>C
NM_001849.3(COL6A2):c.811G>A (p.Gly271Ser) rs121912940
NM_001849.3(COL6A2):c.812G>T (p.Gly271Val) rs794727788
NM_001849.3(COL6A2):c.838G>C (p.Gly280Arg) rs886043323
NM_001849.3(COL6A2):c.847G>A (p.Gly283Arg) rs267606748
NM_001849.3(COL6A2):c.848G>A (p.Gly283Glu) rs886044088
NM_001849.3(COL6A2):c.874G>C (p.Gly292Arg) rs727502828
NM_001849.3(COL6A2):c.875G>T (p.Gly292Val) rs794727855
NM_004369.3(COL6A3):c.1699C>T (p.Gln567Ter) rs1559261557
NM_004369.3(COL6A3):c.175C>T (p.Arg59Ter) rs398124119
NM_004369.3(COL6A3):c.2431C>T (p.Gln811Ter)
NM_004369.3(COL6A3):c.2506C>T (p.Arg836Ter) rs761796175
NM_004369.3(COL6A3):c.2620C>T (p.Arg874Ter) rs1553561409
NM_004369.3(COL6A3):c.5036G>A (p.Gly1679Glu) rs121434553
NM_004369.3(COL6A3):c.5177T>G (p.Leu1726Arg) rs121434555
NM_004369.3(COL6A3):c.5480del (p.Gly1827fs) rs777304794
NM_004369.3(COL6A3):c.6193G>C (p.Gly2065Arg) rs397515332
NM_004369.3(COL6A3):c.6210+1G>A rs398124126
NM_004369.3(COL6A3):c.6212_6309+28del rs1553553313
NM_004369.3(COL6A3):c.6220G>A (p.Gly2074Ser) rs886044252
NM_004369.3(COL6A3):c.6230G>A (p.Gly2077Asp) rs1553553646
NM_004369.3(COL6A3):c.6230G>T (p.Gly2077Val) rs1553553646
NM_004369.3(COL6A3):c.6239G>A (p.Gly2080Asp) rs794727188
NM_004369.3(COL6A3):c.6309+1G>A
NM_004369.3(COL6A3):c.6309G>A (p.Lys2103=)
NM_004369.3(COL6A3):c.6354+1G>A rs886042883
NM_004369.3(COL6A3):c.76C>T (p.Gln26Ter) rs763187844
NM_004369.3(COL6A3):c.8966-1G>C rs767517186

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