ClinVar Miner

List of variants in gene COL6A2 reported by OMIM

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Total variants: 21
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COL6A2, 1-BP INS, 1151C
COL6A2, 1.3-KB DEL
COL6A2, 26-BP DEL, NT731
COL6A2, IVS17AS, A-G, -2
COL6A2, IVS23AS, G-A, -1
NM_001849.3(COL6A2):c.1000-2A>G rs1555873356
NM_001849.3(COL6A2):c.1096C>T (p.Arg366Ter) rs387906609
NM_001849.3(COL6A2):c.1117-10A>G rs1568931397
NM_001849.3(COL6A2):c.1493G>A (p.Arg498His) rs267606749
NM_001849.3(COL6A2):c.1771-1G>T rs748035948
NM_001849.3(COL6A2):c.1856_1861del (p.Val619_Ile620del) rs398122821
NM_001849.3(COL6A2):c.1861G>A (p.Asp621Asn) rs267606750
NM_001849.3(COL6A2):c.1870G>A (p.Glu624Lys) rs387906607
NM_001849.3(COL6A2):c.2329T>C (p.Cys777Arg) rs267606747
NM_001849.3(COL6A2):c.2455C>T (p.Gln819Ter) rs121912942
NM_001849.3(COL6A2):c.2611G>A (p.Asp871Asn) rs387906610
NM_001849.3(COL6A2):c.2626C>A (p.Arg876Ser) rs387906608
NM_001849.3(COL6A2):c.2795C>T (p.Pro932Leu) rs117725825
NM_001849.3(COL6A2):c.811G>A (p.Gly271Ser) rs121912940
NM_001849.3(COL6A2):c.847G>A (p.Gly283Arg) rs267606748

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