ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000393.4(COL5A2):c.1933G>A (p.Gly645Arg)
NM_000393.4(COL5A2):c.1977G>A (p.Pro659=) rs863223491
NM_000393.4(COL5A2):c.3309+1G>A rs1553513657
NM_000393.4(COL5A2):c.3309G>A (p.Pro1103=) rs878853978
NM_000393.4(COL5A2):c.369+1G>T

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