ClinVar Miner

List of variants in gene COL6A3 reported as likely benign by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 30
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HGVS dbSNP
NM_004369.3(COL6A3):c.1024G>A (p.Val342Met) rs111402193
NM_004369.3(COL6A3):c.1478T>C (p.Val493Ala) rs116794756
NM_004369.3(COL6A3):c.1688A>G (p.Asp563Gly) rs112913396
NM_004369.3(COL6A3):c.1761C>T (p.Ala587=) rs34978064
NM_004369.3(COL6A3):c.2147G>A (p.Gly716Asp) rs144514259
NM_004369.3(COL6A3):c.2205C>T (p.Gly735=) rs148713779
NM_004369.3(COL6A3):c.2463T>C (p.Ser821=) rs115387170
NM_004369.3(COL6A3):c.292A>T (p.Thr98Ser) rs76646066
NM_004369.3(COL6A3):c.3270C>T (p.Asp1090=) rs113781746
NM_004369.3(COL6A3):c.3419C>T (p.Thr1140Met) rs201131900
NM_004369.3(COL6A3):c.3446G>A (p.Arg1149Gln) rs36062562
NM_004369.3(COL6A3):c.34G>A (p.Val12Ile) rs137910388
NM_004369.3(COL6A3):c.4032G>A (p.Ser1344=) rs145048734
NM_004369.3(COL6A3):c.4117G>A (p.Ala1373Thr) rs112181324
NM_004369.3(COL6A3):c.4217C>T (p.Thr1406Met) rs114061998
NM_004369.3(COL6A3):c.4399A>G (p.Asn1467Asp) rs138049094
NM_004369.3(COL6A3):c.5712C>T (p.Asp1904=) rs151234107
NM_004369.3(COL6A3):c.5968C>T (p.Arg1990Trp) rs146546544
NM_004369.3(COL6A3):c.7007C>T (p.Pro2336Leu) rs202092407
NM_004369.3(COL6A3):c.7779C>T (p.Ile2593=) rs144249704
NM_004369.3(COL6A3):c.8007C>T (p.His2669=) rs528369978
NM_004369.3(COL6A3):c.8097G>A (p.Val2699=) rs115757876
NM_004369.3(COL6A3):c.8804C>T (p.Ala2935Val) rs36020669
NM_004369.3(COL6A3):c.8865_8867del (p.Ala2960del)
NM_004369.3(COL6A3):c.9012C>T (p.Ser3004=) rs199519571
NM_004369.3(COL6A3):c.9128G>A (p.Arg3043His) rs552651651
NM_004369.3(COL6A3):c.9245C>G (p.Pro3082Arg) rs182976977
NM_004369.3(COL6A3):c.9524T>C (p.Met3175Thr) rs148183839
NM_004369.3(COL6A3):c.958G>A (p.Ala320Thr) rs115819851
NM_057166.5(COL6A3):c.6644-14dup rs111494366

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