ClinVar Miner

List of variants in gene COL6A1 reported by GenomeConnect, ClinGen

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Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001848.3(COL6A1):c.350T>C (p.Val117Ala) rs138899581 0.00080
NM_001848.3(COL6A1):c.911A>G (p.Lys304Arg) rs1064794736 0.00001
NM_001848.3(COL6A1):c.181A>G (p.Lys61Glu) rs1439633596

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