ClinVar Miner

List of variants in gene COL6A1 reported by CeGaT Praxis fuer Humangenetik Tuebingen

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Total variants: 8
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HGVS dbSNP
NM_001848.2(COL6A1):c.1021G>C (p.Gly341Arg) rs886043321
NM_001848.2(COL6A1):c.1182+3G>A rs62215499
NM_001848.2(COL6A1):c.2045G>A (p.Arg682Gln) rs148962954
NM_001848.2(COL6A1):c.2635A>G (p.Ser879Gly) rs140534207
NM_001848.2(COL6A1):c.531C>T (p.Asn177=) rs767176038
NM_001848.2(COL6A1):c.666C>T (p.Arg222=) rs372581026
NM_001848.2(COL6A1):c.738G>A (p.Val246=) rs1064797287
NM_001848.2(COL6A1):c.904-2A>G rs1057519174

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