ClinVar Miner

List of variants studied for Porencephaly 2 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001846.4(COL4A2):c.4141G>A (p.Ala1381Thr) rs201561499 0.00009
NM_001846.4(COL4A2):c.451G>A (p.Gly151Ser) rs746743018 0.00002
NM_001846.4(COL4A2):c.2857G>T (p.Gly953Ter) rs1882974465 0.00001
NM_001846.4(COL4A2):c.3598G>A (p.Gly1200Ser) rs1271683445 0.00001
NM_001846.4(COL4A2):c.1453_1469del (p.Cys485fs) rs2502112972
NM_001846.4(COL4A2):c.2453G>T (p.Gly818Val) rs2502153510
NM_001846.4(COL4A2):c.2687G>A (p.Gly896Glu) rs2502158166
NM_001846.4(COL4A2):c.4049G>A (p.Gly1350Asp) rs2139552522

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