ClinVar Miner

List of variants in gene combination COL4A3, MFF-DT reported as likely pathogenic by Medical Genetics, University of Parma

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000091.5(COL4A3):c.2488_2488+2del rs1363058249 0.00001
NM_000091.5(COL4A3):c.343G>A (p.Gly115Arg) rs202147112 0.00001
NM_000091.5(COL4A3):c.361G>A (p.Gly121Ser) rs778886174 0.00001
NM_000091.5(COL4A3):c.2207G>T (p.Gly736Val) rs773317939
NM_000091.5(COL4A3):c.2489-1G>A rs1574782406
NM_000091.5(COL4A3):c.2621del (p.Gly874fs) rs759043857
NM_000091.5(COL4A3):c.4045G>A (p.Gly1349Ser) rs2073401281

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