List of variants in gene COL6A2, FTCD studied for anemia

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 16

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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.*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_006657.3(FTCD):c.*15C>A	rs114980528	0.00458
NM_001849.4(COL6A2):c.*119A>G	rs1043962
NM_001849.4(COL6A2):c.2697G>T (p.Thr899=)	rs11554669
NM_006657.3(FTCD):c.*127C>A	rs538433909
NM_006657.3(FTCD):c.*67C>T	rs139773262
NM_206965.2(FTCD):c.1540-17_1540-16del	rs747091513

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