ClinVar Miner

List of variants in gene COL4A2 reported as uncertain significance for Porencephalic cyst

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001846.4(COL4A2):c.*413_*414del rs760146256
NM_001846.4(COL4A2):c.2317C>T (p.Pro773Ser) rs886049976
NM_001846.4(COL4A2):c.4040-11_4040-8del rs756684753
NM_001846.4(COL4A2):c.907C>T (p.Leu303=) rs886049970

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