ClinVar Miner

List of variants in gene combination COL6A2, FTCD

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Total variants: 19
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HGVS dbSNP
GRCh37/hg19 21q22.3(chr21:47516746-47556220)x1
GRCh37/hg19 21q22.3(chr21:47551909-47558507)x1
NM_001849.3(COL6A2):c.*116T>C rs3087667
NM_001849.3(COL6A2):c.*119A>G rs1043962
NM_001849.3(COL6A2):c.*158C>T rs11554666
NM_001849.3(COL6A2):c.*61G>A rs1043801
NM_001849.3(COL6A2):c.2592G>A (p.Thr864=) rs1042930
NM_001849.3(COL6A2):c.2697G>T (p.Thr899=) rs11554669
NM_001849.3(COL6A2):c.2724A>G (p.Thr908=) rs9977394
NM_001849.3(COL6A2):c.2803G>A (p.Gly935Arg) rs35548026
NM_001849.3(COL6A2):c.2979C>T (p.Arg993=) rs6652
NM_001849.3(COL6A2):c.2980G>A (p.Ala994Thr) rs117931394
NM_001849.3(COL6A2):c.3043A>C (p.Ile1015Leu) rs11910483
NM_006657.3(FTCD):c.*127C>A rs538433909
NM_006657.3(FTCD):c.*15C>A rs114980528
NM_006657.3(FTCD):c.*67C>T rs139773262
NM_206965.2(FTCD):c.1470C>T (p.Gly490=) rs10432965
NM_206965.2(FTCD):c.1540-17_1540-16del rs747091513
Single allele rs77991819

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