ClinVar Miner

List of variants in gene combination COL6A2, FTCD studied for not provided

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001849.4(COL6A2):c.2724A>G (p.Thr908=) rs9977394 0.13855
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.*61G>A rs1043801 0.05523
NM_001849.4(COL6A2):c.3043A>C (p.Ile1015Leu) rs11910483 0.02152
GRCh37/hg19 21q22.3(chr21:47551909-47558507)x1
NM_001849.4(COL6A2):c.*119A>G rs1043962
NM_001849.4(COL6A2):c.2697G>T (p.Thr899=) rs11554669

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