ClinVar Miner

List of variants in gene COL6A2 reported as uncertain significance by GeneDx

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Total variants: 33
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HGVS dbSNP
NM_001849.3(COL6A2):c.1070C>G (p.Pro357Arg) rs199929757
NM_001849.3(COL6A2):c.1198G>A (p.Gly400Arg) rs1064796261
NM_001849.3(COL6A2):c.1336G>A (p.Asp446Asn) rs535007570
NM_001849.3(COL6A2):c.1358G>A (p.Arg453His) rs878854386
NM_001849.3(COL6A2):c.1465C>T (p.Arg489Trp) rs727502829
NM_001849.3(COL6A2):c.1489C>A (p.Pro497Thr) rs75581470
NM_001849.3(COL6A2):c.1660_1668dup (p.Glu556_Pro557insLysGlyGlu) rs773493556
NM_001849.3(COL6A2):c.1674G>A (p.Ala558=) rs144334894
NM_001849.3(COL6A2):c.1970-3C>A rs201879417
NM_001849.3(COL6A2):c.1970-7_1981dup rs754514524
NM_001849.3(COL6A2):c.2002G>A (p.Glu668Lys) rs138948335
NM_001849.3(COL6A2):c.2048C>T (p.Ser683Phe) rs1258904789
NM_001849.3(COL6A2):c.2093C>T (p.Ala698Val) rs1085307668
NM_001849.3(COL6A2):c.2170C>T (p.Arg724Cys) rs150098077
NM_001849.3(COL6A2):c.22G>A (p.Val8Met) rs192476178
NM_001849.3(COL6A2):c.2566G>A (p.Val856Met) rs368160013
NM_001849.3(COL6A2):c.2605G>T (p.Asp869Tyr) rs141021828
NM_001849.3(COL6A2):c.2623G>A (p.Ala875Thr) rs199606147
NM_001849.3(COL6A2):c.2683A>C (p.Ser895Arg) rs141233891
NM_001849.3(COL6A2):c.2696C>T (p.Thr899Met) rs771341779
NM_001849.3(COL6A2):c.2751G>T (p.Val917=) rs111341650
NM_001849.3(COL6A2):c.2810G>A (p.Arg937Gln) rs777354703
NM_001849.3(COL6A2):c.2843C>T (p.Thr948Met) rs367980010
NM_001849.3(COL6A2):c.2884C>G (p.His962Asp) rs373184224
NM_001849.3(COL6A2):c.2998A>G (p.Lys1000Glu) rs151244310
NM_001849.3(COL6A2):c.3019C>G (p.Gln1007Glu) rs1555877377
NM_001849.3(COL6A2):c.3046C>T (p.Arg1016Cys) rs373392391
NM_001849.3(COL6A2):c.335G>A (p.Gly112Asp) rs776732203
NM_001849.3(COL6A2):c.431A>G (p.Gln144Arg) rs1555871542
NM_001849.3(COL6A2):c.511G>A (p.Gly171Arg) rs200710788
NM_001849.3(COL6A2):c.535C>T (p.Arg179Trp) rs201470058
NM_001849.3(COL6A2):c.773C>G (p.Ser258Cys) rs770303583
NM_001849.3(COL6A2):c.988G>A (p.Asp330Asn) rs139399166

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