ClinVar Miner

List of variants reported as uncertain significance by Molecular Genetics Laboratory; Baylor College of Medicine

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.11928G>A (p.Thr3976=) rs55961436 0.01005
NM_000441.2(SLC26A4):c.691G>C (p.Val231Leu) rs483353047
NM_022124.6(CDH23):c.3929C>A (p.Ala1310Asp) rs483353051
NM_022124.6(CDH23):c.4104+4A>T rs483353052
NM_022124.6(CDH23):c.9510+19_9510+25del rs149704197
NM_133433.4(NIPBL):c.5378T>G (p.Met1793Arg) rs483353060
NM_181458.4(PAX3):c.241G>T (p.Gly81Cys) rs483353059
NM_206933.4(USH2A):c.1724G>T (p.Cys575Phe) rs483353054
NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn) rs483353055

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