ClinVar Miner

List of variants in gene COL6A3 studied for Ullrich congenital muscular dystrophy 1

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Total variants: 9
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HGVS dbSNP
NM_004369.3(COL6A3):c.1393C>T (p.Arg465Ter) rs121434554
NM_004369.3(COL6A3):c.175C>T (p.Arg59Ter) rs398124119
NM_004369.3(COL6A3):c.2236C>A (p.Leu746Ile) rs755052076
NM_004369.3(COL6A3):c.3220G>A (p.Asp1074Asn) rs778403814
NM_004369.3(COL6A3):c.5950C>T (p.Arg1984Ter) rs771941724
NM_004369.3(COL6A3):c.6210+1G>A rs398124126
NM_004369.3(COL6A3):c.6309+1G>T rs886043919
NM_004369.3(COL6A3):c.7330C>T (p.Arg2444Trp) rs771424958
NM_004369.4(COL6A3):c.6930+5G>A rs749037028

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