ClinVar Miner

List of variants in gene COL6A2 reported as uncertain significance by Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences

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Gene type:
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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001849.4(COL6A2):c.2170C>T (p.Arg724Cys) rs150098077 0.00083
NM_001849.4(COL6A2):c.1970-9G>A rs747900252 0.00008
NM_001849.4(COL6A2):c.1055delG rs1555873507

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