ClinVar Miner

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

Included ClinVar conditions (281):
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Gene type:
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Total variants: 10
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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.*116T>C rs3087667 0.08255
NM_001849.4(COL6A2):c.2803G>A (p.Gly935Arg) rs35548026 0.08193
NM_001849.4(COL6A2):c.*61G>A rs1043801 0.05523
NM_001849.4(COL6A2):c.3043A>C (p.Ile1015Leu) rs11910483 0.02152
NM_001849.4(COL6A2):c.2592G>A (p.Thr864=) rs1042930 0.01149
NM_001849.4(COL6A2):c.2980G>A (p.Ala994Thr) rs117931394 0.00474
NM_001849.4(COL6A2):c.*119A>G rs1043962
NM_001849.4(COL6A2):c.2697G>T (p.Thr899=) rs11554669
NM_206965.2(FTCD):c.1540-17_1540-16del rs747091513

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