ClinVar Miner

List of variants reported as likely pathogenic by Molecular Medicine Center, Medical University of Sofia

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Total variants: 4
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NM_000030.3(AGXT):c.534C>G (p.Cys178Trp)
NM_000092.4(COL4A4):c.719G>A (p.Gly240Glu) rs1559643753
NM_001002295.2(GATA3):c.1262C>T (p.Thr421Met) rs374919553
NM_033380.3(COL4A5):c.1967G>A (p.Gly656Asp)

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