ClinVar Miner

List of variants reported by Cytogenetics and Molecular Genetics Section, Pathology Unit, BARC Hospital, Bhabha Atomic Research Centre

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000441.2(SLC26A4):c.1416G>A (p.Trp472Ter)
NM_001375808.2(LPIN2):c.696del (p.Thr233fs) rs2144209550
NM_001904.4(CTNNB1):c.1924G>T (p.Glu642Ter) rs2078436466
NM_014780.5(CUL7):c.2943_2944del (p.Cys982fs) rs1064792895
NM_016929.5(CLIC5):c.401A>G (p.Asn134Ser)
NM_022124.6(CDH23):c.6571_6593del (p.Thr2191fs)
NM_022124.6(CDH23):c.811A>T (p.Ile271Phe)
NM_033641.4(COL4A6):c.227G>A (p.Gly76Glu)

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