ClinVar Miner

List of variants in gene COL5A2 reported as likely pathogenic by Invitae

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000393.5(COL5A2):c.322+1G>C rs770598613 0.00014
NM_000393.5(COL5A2):c.1005+3A>G rs375809563 0.00003
NM_000393.5(COL5A2):c.1302G>A (p.Thr434=) rs376170776 0.00001
NC_000002.11:g.(?_189913190)_(189918176_?)del
NM_000393.5(COL5A2):c.1159-1G>A
NM_000393.5(COL5A2):c.1186G>C (p.Gly396Arg) rs1686209873
NM_000393.5(COL5A2):c.1502G>A (p.Gly501Asp)
NM_000393.5(COL5A2):c.1924-11T>C
NM_000393.5(COL5A2):c.1933G>A (p.Gly645Arg) rs1559085564
NM_000393.5(COL5A2):c.1977+1G>A rs1576502045
NM_000393.5(COL5A2):c.2130+1G>A rs2105579086
NM_000393.5(COL5A2):c.3309+1G>A rs1553513657
NM_000393.5(COL5A2):c.3445G>C (p.Gly1149Arg) rs121912930
NM_000393.5(COL5A2):c.369+1G>T rs1559104199
NM_000393.5(COL5A2):c.754G>T (p.Gly252Cys) rs1553517323

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