ClinVar Miner

List of variants in gene combination COL4A3, LOC654841 reported as likely pathogenic by GeneDx

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Total variants: 6
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HGVS dbSNP
NM_000091.4(COL4A3):c.1184G>A (p.Gly395Glu) rs1131691738
NM_000091.4(COL4A3):c.1918G>A (p.Gly640Arg) rs200672668
NM_000091.4(COL4A3):c.2012G>A (p.Gly671Asp) rs1085307955
NM_000091.4(COL4A3):c.3068_3069delCA (p.Pro1023Argfs) rs1064796094
NM_000091.4(COL4A3):c.3643C>T (p.Arg1215Ter)
NM_000091.4(COL4A3):c.3882+5G>A rs1553764454

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