ClinVar Miner

List of variants reported as likely pathogenic for Bethlem myopathy 1

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Total variants: 43
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HGVS dbSNP
NC_000002.11:g.(?_238267144)_(238269837_?)del
NM_001848.2(COL6A1):c.1021G>T (p.Gly341Cys) rs886043321
NM_001848.2(COL6A1):c.1398+2T>G rs1569518481
NM_001848.2(COL6A1):c.1575+1G>A
NM_001848.2(COL6A1):c.1576-1G>A
NM_001848.2(COL6A1):c.1576-2_1576-1del
NM_001848.2(COL6A1):c.1823-1G>T rs1569519030
NM_001848.2(COL6A1):c.1945G>A (p.Glu649Lys) rs764129993
NM_001848.2(COL6A1):c.788G>T (p.Gly263Val)
NM_001848.2(COL6A1):c.809_811del (p.Glu270_Arg271delinsGly) rs1569518070
NM_001848.2(COL6A1):c.824G>T (p.Gly275Val) rs1556425468
NM_001848.2(COL6A1):c.846_854del (p.Glu282_Gly284del) rs1556425474
NM_001848.2(COL6A1):c.878G>A (p.Gly293Glu)
NM_001848.2(COL6A1):c.957_957+7del rs1556425687
NM_001848.2(COL6A1):c.958-2A>G rs1556425717
NM_001849.3(COL6A2):c.1000-13_1030del rs1555873353
NM_001849.3(COL6A2):c.1000-2A>C rs1555873356
NM_001849.3(COL6A2):c.1054-2A>G rs886044023
NM_001849.3(COL6A2):c.1055del rs1555873507
NM_001849.3(COL6A2):c.1180-2A>G
NM_001849.3(COL6A2):c.1466G>A (p.Arg489Gln) rs61735828
NM_001849.3(COL6A2):c.1806C>A (p.Cys602Ter) rs751987553
NM_001849.3(COL6A2):c.2096G>A (p.Gly699Asp) rs863224861
NM_001849.3(COL6A2):c.2329T>C (p.Cys777Arg) rs267606747
NM_001849.3(COL6A2):c.2572C>T (p.Gln858Ter) rs1555877252
NM_001849.3(COL6A2):c.735+9_784del
NM_001849.3(COL6A2):c.801+1G>A rs794727715
NM_001849.3(COL6A2):c.839G>A (p.Gly280Asp) rs1568928804
NM_001849.3(COL6A2):c.857G>A (p.Gly286Glu) rs727502827
NM_001849.3(COL6A2):c.911G>T (p.Gly304Val) rs727502832
NM_001849.3(COL6A2):c.954G>T (p.Lys318Asn) rs878854362
NM_001849.3(COL6A2):c.955-3_955-1delinsAA rs1568929639
NM_004369.3(COL6A3):c.1897+1G>T rs1230578718
NM_004369.3(COL6A3):c.3844G>A (p.Val1282Met) rs535661345
NM_004369.3(COL6A3):c.4121A>T (p.Asp1374Val) rs766488017
NM_004369.3(COL6A3):c.5838+1G>T rs1559234260
NM_004369.3(COL6A3):c.6212G>A (p.Gly2071Asp) rs886043737
NM_004369.3(COL6A3):c.6310-2A>G rs1559225993
NM_004369.3(COL6A3):c.6320_6322del (p.Gly2107del) rs1559225974
NM_004369.3(COL6A3):c.6853G>A (p.Gly2285Arg) rs1268762655
NM_004369.3(COL6A3):c.6898G>A (p.Gly2300Arg) rs763348222
NM_004369.3(COL6A3):c.7264C>T (p.Arg2422Ter) rs878854379
NM_057166.5(COL6A3):c.4489-28_4504del rs1553553267

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