ClinVar Miner

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

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Total variants: 16
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HGVS dbSNP
COL6A3, IVS29, A-G, +5
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.4124delA (p.Gln1375Argfs) rs886042447
NM_004369.3(COL6A3):c.5950C>T (p.Arg1984Ter)
NM_004369.3(COL6A3):c.6193G>A (p.Gly2065Ser) rs397515332
NM_004369.3(COL6A3):c.6210+1G>A rs398124126
NM_004369.3(COL6A3):c.6212G>A (p.Gly2071Asp) rs886043737
NM_004369.3(COL6A3):c.6239G>A (p.Gly2080Asp) rs794727188
NM_004369.3(COL6A3):c.6282+1G>A rs398124128
NM_004369.3(COL6A3):c.6293G>T (p.Gly2098Val) rs794727206
NM_004369.3(COL6A3):c.6309+1G>T rs886043919
NM_004369.3(COL6A3):c.6354+1G>A rs886042883
NM_004369.3(COL6A3):c.7330C>T (p.Arg2444Trp)

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