ClinVar Miner

List of variants in gene combination COL4A3, MFF-DT reported as benign by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000091.5(COL4A3):c.485A>G (p.Glu162Gly) rs6436669 0.77323
NM_000091.5(COL4A3):c.422T>C (p.Leu141Pro) rs10178458 0.77314
NM_000091.5(COL4A3):c.1195C>T (p.Leu399=) rs10205042 0.72668
NM_000091.5(COL4A3):c.1721C>T (p.Pro574Leu) rs28381984 0.38447
NM_000091.5(COL4A3):c.144+12C>A rs1882435 0.29027
NM_000091.5(COL4A3):c.1352A>G (p.His451Arg) rs11677877 0.08050
NM_000091.5(COL4A3):c.3807C>A (p.Asp1269Glu) rs57611801 0.06070
NM_000091.5(COL4A3):c.547-9A>C rs55667591 0.02682
NM_000091.5(COL4A3):c.325-27C>T rs112712399 0.02674
NM_000091.5(COL4A3):c.399G>A (p.Gly133=) rs75683214 0.02133
NM_000091.5(COL4A3):c.3751+66C>T rs55843236 0.02109
NM_000091.5(COL4A3):c.2501A>G (p.Lys834Arg) rs56226424 0.01064
NM_000091.5(COL4A3):c.88-4C>T rs148393022 0.00744
NM_000091.5(COL4A3):c.222G>T (p.Pro74=) rs187950806 0.00096
NM_000091.5(COL4A3):c.127G>C (p.Gly43Arg) rs13424243

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