ClinVar Miner

List of variants in gene COL6A3 reported as uncertain significance by CeGaT Praxis fuer Humangenetik Tuebingen

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Total variants: 19
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HGVS dbSNP
NM_004369.3(COL6A3):c.1688A>G (p.Asp563Gly) rs112913396
NM_004369.3(COL6A3):c.3087C>T (p.Asp1029=) rs113066678
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.3549C>G (p.Asp1183Glu) rs762240306
NM_004369.3(COL6A3):c.3668T>C (p.Leu1223Pro) rs772944531
NM_004369.3(COL6A3):c.4173G>A (p.Val1391=) rs1553559164
NM_004369.3(COL6A3):c.4240G>C (p.Glu1414Gln) rs539986030
NM_004369.3(COL6A3):c.4254G>A (p.Lys1418=) rs528204718
NM_004369.3(COL6A3):c.4510C>T (p.Arg1504Trp) rs144223596
NM_004369.3(COL6A3):c.5619C>T (p.His1873=) rs146355600
NM_004369.3(COL6A3):c.5635G>A (p.Gly1879Ser) rs760603443
NM_004369.3(COL6A3):c.5743C>T (p.Arg1915Trp) rs201938007
NM_004369.3(COL6A3):c.5833G>C (p.Val1945Leu) rs113332380
NM_004369.3(COL6A3):c.6075C>T (p.Ala2025=) rs375668409
NM_004369.3(COL6A3):c.6199G>A (p.Glu2067Lys) rs760446904
NM_004369.3(COL6A3):c.6833C>T (p.Pro2278Leu) rs773775745
NM_004369.3(COL6A3):c.8397C>T (p.Asp2799=) rs1553546085
NM_004369.3(COL6A3):c.8411T>C (p.Leu2804Pro) rs1553546077

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