ClinVar Miner

List of variants in gene COL6A1 reported as pathogenic by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 41
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HGVS dbSNP
NM_001848.2(COL6A1):c.1002+1G>A rs886043700
NM_001848.2(COL6A1):c.1002+1G>T rs886043700
NM_001848.2(COL6A1):c.1002+2T>G rs1322590833
NM_001848.2(COL6A1):c.1003-12_1006delinsGGA rs1556425832
NM_001848.2(COL6A1):c.1003-1G>A rs886043330
NM_001848.2(COL6A1):c.1003-2del rs1556425835
NM_001848.2(COL6A1):c.1003_1056del54 rs398123631
NM_001848.2(COL6A1):c.1013G>A (p.Gly338Glu) rs794727121
NM_001848.2(COL6A1):c.1021G>T (p.Gly341Cys) rs886043321
NM_001848.2(COL6A1):c.1022G>T (p.Gly341Val) rs121912935
NM_001848.2(COL6A1):c.1039_1052del (p.Lys346_Gly347insTer) rs886043291
NM_001848.2(COL6A1):c.1056+1del rs1556425853
NM_001848.2(COL6A1):c.1425del (p.Gly476fs) rs878854398
NM_001848.2(COL6A1):c.1611+1G>A rs886042748
NM_001848.2(COL6A1):c.1641_1642del (p.Asp548fs) rs1569518771
NM_001848.2(COL6A1):c.1693C>T (p.Arg565Ter) rs1304888945
NM_001848.2(COL6A1):c.2122C>T (p.Gln708Ter) rs1569519109
NM_001848.2(COL6A1):c.2160dup (p.Asn721fs) rs1249738773
NM_001848.2(COL6A1):c.2435-2A>G rs940473416
NM_001848.2(COL6A1):c.315_349del (p.Met106fs) rs886043147
NM_001848.2(COL6A1):c.362A>G (p.Lys121Arg) rs121912936
NM_001848.2(COL6A1):c.774_781TCCGGGGC[1] (p.Leu261fs) rs886043354
NM_001848.2(COL6A1):c.805-2A>G rs398123639
NM_001848.2(COL6A1):c.811C>T (p.Arg271Ter) rs1391624796
NM_001848.2(COL6A1):c.850G>A (p.Gly284Arg) rs121912938
NM_001848.2(COL6A1):c.859-1G>C rs1556425531
NM_001848.2(COL6A1):c.868G>A (p.Gly290Arg) rs121912939
NM_001848.2(COL6A1):c.903+1G>T rs1569518119
NM_001848.2(COL6A1):c.904-2A>G rs1057519174
NM_001848.2(COL6A1):c.904G>A (p.Gly302Arg) rs794727028
NM_001848.2(COL6A1):c.904G>C (p.Gly302Arg) rs794727028
NM_001848.2(COL6A1):c.928_930del (p.Lys310del) rs886043114
NM_001848.2(COL6A1):c.930+189C>T rs1556425596
NM_001848.2(COL6A1):c.930+1G>A rs886042902
NM_001848.2(COL6A1):c.931-1G>A
NM_001848.2(COL6A1):c.931-1G>C rs886042354
NM_001848.2(COL6A1):c.932G>A (p.Gly311Asp) rs886044231
NM_001848.2(COL6A1):c.957+1G>A rs886044535
NM_001848.2(COL6A1):c.957+2T>C rs794727060
NM_001848.2(COL6A1):c.957_957+7del rs1556425687
NM_001848.2(COL6A1):c.98-2_103delAGACTGCC rs1556423703

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