ClinVar Miner

List of variants in gene COL6A2 reported as pathogenic for Ullrich congenital muscular dystrophy

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_058174.3(COL6A2):c.2554C>T (p.Gln852Ter) rs777172978 0.00006
NM_001849.4(COL6A2):c.1493G>A (p.Arg498His) rs267606749 0.00005
NM_001849.4(COL6A2):c.1461del (p.Ser488fs) rs398123645 0.00003
NM_001849.4(COL6A2):c.1615C>T (p.Arg539Ter) rs749593004 0.00001
NM_001849.4(COL6A2):c.1870G>A (p.Glu624Lys) rs387906607 0.00001
NM_001849.4(COL6A2):c.101_104del (p.Asn34fs) rs2123612919
NM_001849.4(COL6A2):c.1117-10A>G rs1568931397
NM_001849.4(COL6A2):c.1151dup (p.Glu386fs) rs1601231322
NM_001849.4(COL6A2):c.1459-2A>G rs749974929
NM_001849.4(COL6A2):c.1488_1513del (p.Arg498fs)
NM_001849.4(COL6A2):c.1521+1G>A rs2123646873
NM_001849.4(COL6A2):c.1771-1G>A rs748035948
NM_001849.4(COL6A2):c.1771-1G>T rs748035948
NM_001849.4(COL6A2):c.1856_1861del (p.Val619_Ile620del) rs398122821
NM_001849.4(COL6A2):c.2305_2306del (p.Glu768_Ser769insTer) rs2078662535
NM_001849.4(COL6A2):c.2329T>C (p.Cys777Arg) rs267606747
NM_001849.4(COL6A2):c.2422+1G>A rs113828929
NM_001849.4(COL6A2):c.2626C>A (p.Arg876Ser) rs387906608
NM_001849.4(COL6A2):c.736-2A>G rs1057518925
NM_001849.4(COL6A2):c.801+631_882del
NM_001849.4(COL6A2):c.847G>A (p.Gly283Arg) rs267606748
NM_001849.4(COL6A2):c.955-2A>C rs1555873084

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