ClinVar Miner

List of variants reported as uncertain significance by Cytogenetics- Mohapatra Lab, Banaras Hindu University

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_007078.3(LDB3):c.689+3825G>C rs3740345 0.66820
NM_007078.3(LDB3):c.859+47G>C rs3740346 0.13647
NM_007078.3(LDB3):c.1074C>T (p.Ala358=) rs45459491 0.02688
NM_001368067.1(LDB3):c.456G>A (p.Ala152=) rs371708921 0.00002
NM_001200.4(BMP2):c.721A>T (p.Lys241Ter)
NM_004387.4(NKX2-5):c.335-12G>A rs864321646
NM_004387.4(NKX2-5):c.335-20G>A rs864321647
NM_007078.3(LDB3):c.*30C>G rs1847531002
NM_007078.3(LDB3):c.1041C>A (p.Ser347=) rs45555240
NM_007078.3(LDB3):c.1167C>T (p.Ala389=) rs768844187
NM_007078.3(LDB3):c.1213C>A (p.Pro405Thr) rs1846584122
NM_007078.3(LDB3):c.690-4571A>C rs111941601
NM_007078.3(LDB3):c.859+81G>A rs1845795580
NM_007078.3(LDB3):c.896+11G>A rs1845818201
NM_007078.3(LDB3):c.896+86G>A rs1845822049

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