ClinVar Miner

List of variants in gene combination COL6A2, FTCD reported as benign for Myosclerosis

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Total variants: 9
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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 0.13855
NM_206965.2(FTCD):c.1470C>T (p.Gly490=) rs10432965 0.09606
NM_001849.4(COL6A2):c.*116T>C rs3087667 0.08255
NM_001849.4(COL6A2):c.2803G>A (p.Gly935Arg) rs35548026 0.08193
NM_001849.4(COL6A2):c.*158C>T rs11554666 0.06989
NM_001849.4(COL6A2):c.3043A>C (p.Ile1015Leu) rs11910483 0.02152
NM_001849.4(COL6A2):c.2980G>A (p.Ala994Thr) rs117931394 0.00474
NM_001849.4(COL6A2):c.*119A>G rs1043962

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