ClinVar Miner

List of variants in gene combination COL6A2, FTCD reported as benign for GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY

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Gene type:
ClinVar version:
Total variants: 3
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NM_001849.3(COL6A2):c.*158C>T rs11554666
NM_001849.3(COL6A2):c.2724A>G (p.Thr908=) rs9977394
NM_206965.2(FTCD):c.1470C>T (p.Gly490=) rs10432965

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