ClinVar Miner

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

Included ClinVar conditions (262):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_001849.3(COL6A2):c.*116T>C rs3087667
NM_001849.3(COL6A2):c.*119A>G rs1043962
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.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

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