ClinVar Miner

List of variants in gene COL4A2 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001846.4(COL4A2):c.4987G>A (p.Gly1663Ser) rs12877501 0.00043
NM_001846.4(COL4A2):c.608A>T (p.His203Leu) rs201716258 0.00024
NM_001846.4(COL4A2):c.290G>A (p.Gly97Glu) rs749501904 0.00005
NM_001846.4(COL4A2):c.2842G>A (p.Glu948Lys) rs199678709 0.00004
NM_001846.4(COL4A2):c.1264G>A (p.Gly422Arg) rs779091629 0.00001
NM_001846.4(COL4A2):c.4732G>A (p.Val1578Met) rs376052562 0.00001
NM_001846.4(COL4A2):c.5018G>C (p.Ser1673Thr) rs754784235 0.00001
NM_001846.4(COL4A2):c.827G>A (p.Gly276Asp) rs372917662 0.00001
NM_001846.4(COL4A2):c.1287_1339+1dup rs1566539998
NM_001846.4(COL4A2):c.1340-4C>G
NM_001846.4(COL4A2):c.1396G>A (p.Gly466Ser)
NM_001846.4(COL4A2):c.2038+1G>A
NM_001846.4(COL4A2):c.2308A>T (p.Arg770Trp)
NM_001846.4(COL4A2):c.2846C>T (p.Ala949Val) rs778696475
NM_001846.4(COL4A2):c.287C>T (p.Pro96Leu)
NM_001846.4(COL4A2):c.4381C>G (p.Gln1461Glu) rs1883762955
NM_001846.4(COL4A2):c.4597C>A (p.Leu1533Met)
NM_001846.4(COL4A2):c.4815G>C (p.Gln1605His) rs746358473
NM_001846.4(COL4A2):c.4828C>T (p.Pro1610Ser)
NM_001846.4(COL4A2):c.5004C>G (p.Tyr1668Ter)
NM_001846.4(COL4A2):c.5056G>T (p.Gly1686Cys) rs778961988
NM_001846.4(COL4A2):c.522_525del (p.Pro175fs) rs2139458607
NM_001846.4(COL4A2):c.812C>T (p.Pro271Leu)

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