ClinVar Miner

List of variants in gene COL6A3 reported as likely pathogenic by GeneDx

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Total variants: 13
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NM_004369.3(COL6A3):c.175C>T (p.Arg59Ter) rs398124119
NM_004369.3(COL6A3):c.4390C>T (p.Arg1464Ter) rs912671116
NM_004369.3(COL6A3):c.6167G>A (p.Gly2056Glu) rs1064795558
NM_004369.3(COL6A3):c.6193G>A (p.Gly2065Ser) rs397515332
NM_004369.3(COL6A3):c.6199G>A (p.Glu2067Lys) rs760446904
NM_004369.3(COL6A3):c.6212G>A (p.Gly2071Asp) rs886043737
NM_004369.3(COL6A3):c.6248G>T (p.Gly2083Val) rs1085307697
NM_004369.3(COL6A3):c.6331_6339CTGGATGGT[1] (p.2111_2113LDG[1]) rs1553553248
NM_004369.3(COL6A3):c.7447A>G (p.Lys2483Glu) rs139260335
NM_004369.3(COL6A3):c.749C>A (p.Ser250Ter) rs1085307777
NM_004369.3(COL6A3):c.8076T>G (p.Tyr2692Ter) rs1306053610
NM_004369.3(COL6A3):c.8965+1G>A rs995147980

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