ClinVar Miner

List of variants in gene COL4A4 reported as likely pathogenic by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

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Gene type:
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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_000092.5(COL4A4):c.1334G>C (p.Gly445Ala) rs548019779 0.00005
NM_000092.5(COL4A4):c.3089G>A (p.Gly1030Asp) rs772699709 0.00003
NM_000092.5(COL4A4):c.481G>C (p.Gly161Arg) rs755961411 0.00002
NM_000092.5(COL4A4):c.1424G>C (p.Gly475Ala) rs1559594442 0.00001
NM_000092.5(COL4A4):c.4858G>A (p.Gly1620Ser) rs1271416659 0.00001
NM_000092.5(COL4A4):c.5044C>T (p.Arg1682Trp) rs766550724 0.00001
NM_000092.5(COL4A4):c.1030-1G>C rs1559620132
NM_000092.5(COL4A4):c.1424G>T (p.Gly475Val) rs1559594442
NM_000092.5(COL4A4):c.1828G>A (p.Gly610Ser) rs1559563525
NM_000092.5(COL4A4):c.1907G>A (p.Gly636Asp) rs1559563141
NM_000092.5(COL4A4):c.1935_1952del (p.Pro647_Val652del) rs1553658892
NM_000092.5(COL4A4):c.2160_2163dup (p.Gly722fs) rs1976595425
NM_000092.5(COL4A4):c.2402G>T (p.Gly801Val) rs200814061
NM_000092.5(COL4A4):c.2662G>A (p.Gly888Arg) rs1363277825
NM_000092.5(COL4A4):c.3574_3577+8del rs1553627655
NM_000092.5(COL4A4):c.3638G>T (p.Gly1213Val) rs1559455617
NM_000092.5(COL4A4):c.3875G>A (p.Gly1292Asp) rs971779449
NM_000092.5(COL4A4):c.4063G>A (p.Gly1355Arg) rs1553624029
NM_000092.5(COL4A4):c.4090G>T (p.Gly1364Cys) rs1553622675
NM_000092.5(COL4A4):c.436G>A (p.Gly146Ser) rs886055729
NM_000092.5(COL4A4):c.446G>T (p.Gly149Val) rs374815903
NM_000092.5(COL4A4):c.4948T>C (p.Phe1650Leu) rs1553611876
NM_000092.5(COL4A4):c.596G>T (p.Gly199Val) rs1559646395
NM_000092.5(COL4A4):c.693G>A (p.Lys231=) rs1559644463
NM_000092.5(COL4A4):c.710del (p.Gly237fs) rs2060994755
NM_000092.5(COL4A4):c.718G>C (p.Gly240Arg) rs2060994526
NM_000092.5(COL4A4):c.81_86del (p.27IL[1]) rs771943519
NM_000092.5(COL4A4):c.941G>T (p.Gly314Val) rs1005389790

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