ClinVar Miner

List of variants in gene COL6A3 reported as uncertain significance by Fulgent Genetics

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Total variants: 9
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HGVS dbSNP
NM_004369.3(COL6A3):c.3040A>G (p.Lys1014Glu) rs114284669
NM_004369.3(COL6A3):c.3055G>A (p.Gly1019Arg) rs370664069
NM_004369.3(COL6A3):c.3223C>T (p.Arg1075Trp) rs201962257
NM_004369.3(COL6A3):c.3499A>T (p.Ile1167Phe) rs886042996
NM_004369.3(COL6A3):c.4309A>T (p.Ile1437Phe) rs144314743
NM_004369.3(COL6A3):c.5341A>G (p.Ile1781Val) rs145447965
NM_004369.3(COL6A3):c.5825C>T (p.Pro1942Leu) rs150694150
NM_004369.3(COL6A3):c.709+8C>T rs779535244
NM_004369.3(COL6A3):c.8009C>T (p.Ala2670Val) rs142851023

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