ClinVar Miner

List of variants in gene COL6A3 reported as likely pathogenic by Invitae

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Gene type:
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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_004369.4(COL6A3):c.1897+1G>T rs1230578718 0.00001
NM_004369.4(COL6A3):c.6853G>A (p.Gly2285Arg) rs1268762655 0.00001
NC_000002.12:g.(?_237362747)_(237372158_?)del
NM_004369.4(COL6A3):c.1313-442_1595delinsGCAAC
NM_004369.4(COL6A3):c.3071-1G>A
NM_004369.4(COL6A3):c.4286-2A>C
NM_004369.4(COL6A3):c.4286-2A>G rs761453030
NM_004369.4(COL6A3):c.5035G>A (p.Gly1679Arg) rs2106350905
NM_004369.4(COL6A3):c.5524G>A (p.Gly1842Arg)
NM_004369.4(COL6A3):c.5838+1G>T rs1559234260
NM_004369.4(COL6A3):c.6130G>A (p.Gly2044Arg) rs1559229322
NM_004369.4(COL6A3):c.6156G>C (p.Lys2052Asn) rs398124125
NM_004369.4(COL6A3):c.6158G>T (p.Gly2053Val) rs886041329
NM_004369.4(COL6A3):c.6193G>A (p.Gly2065Ser) rs397515332
NM_004369.4(COL6A3):c.6221G>A (p.Gly2074Asp)
NM_004369.4(COL6A3):c.6238G>C (p.Gly2080Arg) rs1553553625
NM_004369.4(COL6A3):c.6409-1G>C
NM_004369.4(COL6A3):c.6967-2A>G
NM_004369.4(COL6A3):c.7162+1G>A
NM_004369.4(COL6A3):c.7331G>C (p.Arg2444Pro) rs895701604
NM_004369.4(COL6A3):c.9230-1G>A

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