ClinVar Miner

List of variants in gene COL6A3 reported as likely pathogenic for congenital muscular dystrophy

Included ClinVar conditions (105):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu) rs139260335 0.00057
NM_004369.4(COL6A3):c.6422C>A (p.Pro2141His) rs369169235 0.00010
NM_004369.4(COL6A3):c.6898G>A (p.Gly2300Arg) rs763348222 0.00006
NM_004369.4(COL6A3):c.4121A>T (p.Asp1374Val) rs766488017 0.00004
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter) rs398124119 0.00003
NM_004369.4(COL6A3):c.1897+1G>T rs1230578718 0.00001
NM_004369.4(COL6A3):c.5950C>T (p.Arg1984Ter) rs771941724 0.00001
NM_004369.4(COL6A3):c.6853G>A (p.Gly2285Arg) rs1268762655 0.00001
NC_000002.11:g.(238247761_238249094)_(238257307_238258789)del
NC_000002.11:g.238258810delG rs794729205
NC_000002.12:g.(?_237362747)_(237372158_?)del
NM_004369.4(COL6A3):c.1313-442_1595delinsGCAAC
NM_004369.4(COL6A3):c.2506C>T (p.Arg836Ter) rs761796175
NM_004369.4(COL6A3):c.3071-1G>A
NM_004369.4(COL6A3):c.3844G>A (p.Val1282Met) rs535661345
NM_004369.4(COL6A3):c.4286-2A>C
NM_004369.4(COL6A3):c.4286-2A>G rs761453030
NM_004369.4(COL6A3):c.4950_4963del (p.Arg1651fs)
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.6157-1G>A
NM_004369.4(COL6A3):c.6158G>A (p.Gly2053Asp)
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.6215_6225del (p.Glu2072fs) rs1574976615
NM_004369.4(COL6A3):c.6221G>A (p.Gly2074Asp)
NM_004369.4(COL6A3):c.6238G>C (p.Gly2080Arg) rs1553553625
NM_004369.4(COL6A3):c.6238G>T (p.Gly2080Cys)
NM_004369.4(COL6A3):c.6409-1G>C
NM_004369.4(COL6A3):c.6424C>T (p.Arg2142Ter)
NM_004369.4(COL6A3):c.6787C>T (p.Arg2263Ter) rs748966916
NM_004369.4(COL6A3):c.6967-2A>G
NM_004369.4(COL6A3):c.6967G>A (p.Gly2323Ser)
NM_004369.4(COL6A3):c.7162+1G>A
NM_004369.4(COL6A3):c.7264C>T (p.Arg2422Ter) rs878854379
NM_004369.4(COL6A3):c.7331G>C (p.Arg2444Pro) rs895701604
NM_004369.4(COL6A3):c.7669-2del rs764193290
NM_004369.4(COL6A3):c.7975C>T (p.Gln2659Ter) rs2076974450
NM_004369.4(COL6A3):c.8074del (p.Tyr2692fs) rs2106319784
NM_004369.4(COL6A3):c.9047dup (p.Pro3017fs)
NM_004369.4(COL6A3):c.9175del (p.Val3059fs)
NM_004369.4(COL6A3):c.9230-1G>A

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