ClinVar Miner

List of variants reported as uncertain significance for Porencephaly 2; Hemorrhage, intracerebral, susceptibility to by Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001846.4(COL4A2):c.4123G>A (p.Asp1375Asn)	rs368612819	0.00001
NM_001846.4(COL4A2):c.2515G>A (p.Gly839Arg)
NM_001846.4(COL4A2):c.4903G>C (p.Gly1635Arg)

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