ClinVar Miner

List of variants in gene COL5A2 reported as likely pathogenic

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Total variants: 18
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HGVS dbSNP
NM_000393.5(COL5A2):c.1401G>A (p.Pro467=) rs1553515794
NM_000393.5(COL5A2):c.1933G>A (p.Gly645Arg) rs1559085564
NM_000393.5(COL5A2):c.1977+1G>A
NM_000393.5(COL5A2):c.1977G>A (p.Pro659=) rs863223491
NM_000393.5(COL5A2):c.1A>G (p.Met1Val) rs563606558
NM_000393.5(COL5A2):c.2391+5G>A rs1553514799
NM_000393.5(COL5A2):c.2968G>A (p.Gly990Arg) rs1040238147
NM_000393.5(COL5A2):c.322+1G>C rs770598613
NM_000393.5(COL5A2):c.3275G>A (p.Gly1092Asp) rs770974455
NM_000393.5(COL5A2):c.329G>A (p.Gly110Glu) rs863223501
NM_000393.5(COL5A2):c.3309+1G>A rs1553513657
NM_000393.5(COL5A2):c.3309G>A (p.Pro1103=) rs878853978
NM_000393.5(COL5A2):c.3373G>A (p.Gly1125Arg) rs151187317
NM_000393.5(COL5A2):c.3391G>A (p.Gly1131Ser) rs747946828
NM_000393.5(COL5A2):c.3544G>T (p.Gly1182Cys) rs1057524163
NM_000393.5(COL5A2):c.369+1G>T rs1559104199
NM_000393.5(COL5A2):c.754G>T (p.Gly252Cys) rs1553517323
NM_000393.5(COL5A2):c.808G>A (p.Gly270Ser) rs1553517181

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