ClinVar Miner

List of variants in gene combination COL6A2, FTCD reported by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001849.4(COL6A2):c.2979C>T (p.Arg993=) rs6652 0.14487
NM_001849.4(COL6A2):c.2724A>G (p.Thr908=) rs9977394 0.13744
NM_206965.2(FTCD):c.1470C>T (p.Gly490=) rs10432965 0.09839
NM_001849.4(COL6A2):c.2803G>A (p.Gly935Arg) rs35548026 0.08193
NM_001849.4(COL6A2):c.3043A>C (p.Ile1015Leu) rs11910483 0.02006
NM_001849.4(COL6A2):c.2592G>A (p.Thr864=) rs1042930 0.01149
NM_001849.4(COL6A2):c.2980G>A (p.Ala994Thr) rs117931394 0.00652
NC_000021.8:g.(?_47551848)_(47575437_?)dup
NC_000021.8:g.(?_47552332)_(47557196_?)del
NM_001849.4(COL6A2):c.2697G>T (p.Thr899=) rs11554669
NM_206965.2(FTCD):c.1540-17_1540-16del rs747091513

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