ClinVar Miner

List of variants reported by Leeds Vision Research Group, University of Leeds

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001349884.2(DRAM2):c.494G>A (p.Trp165Ter) rs201422368 0.00004
NM_001904.4(CTNNB1):c.2128C>T (p.Arg710Cys) rs748653573 0.00002
NM_001349884.2(DRAM2):c.131G>A (p.Ser44Asn) rs786205665 0.00001
NM_001349884.2(DRAM2):c.140del (p.Gly47fs) rs746559651
NM_001349884.2(DRAM2):c.217_225del (p.Val73_Tyr75del) rs786205663
NM_001349884.2(DRAM2):c.362A>T (p.His121Leu) rs786205664
NM_001349884.2(DRAM2):c.61GCT[1] (p.Ala22del) rs786205661
NM_001349884.2(DRAM2):c.79T>C (p.Tyr27His) rs786205662
NM_001904.4(CTNNB1):c.1434_1435insC (p.Glu479fs) rs1057519379
NM_001904.4(CTNNB1):c.2142_2157dup (p.His720Ter) rs1057519380

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