ClinVar Miner

List of variants in gene combination SOX2, SOX2-OT reported by GeneDx

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_003106.4(SOX2):c.*469C>A rs11915160 0.11028
NM_003106.4(SOX2):c.*557G>A rs77677339 0.02528
NM_003106.4(SOX2):c.*337A>G rs141354265 0.01271
NM_003106.4(SOX2):c.834C>T (p.Leu278=) rs144530684 0.00177
NM_003106.4(SOX2):c.561T>C (p.Asn187=) rs147606682 0.00028
NM_003106.4(SOX2):c.651G>T (p.Met217Ile) rs199887134 0.00021
NM_003106.4(SOX2):c.869G>C (p.Ser290Thr) rs779686992 0.00013
NM_003106.4(SOX2):c.840C>G (p.Gly280=) rs767686608 0.00005
NM_003106.4(SOX2):c.757C>G (p.Pro253Ala) rs1034815541 0.00001
NM_003106.4(SOX2):c.*135dup rs201617684
NM_003106.4(SOX2):c.*22G>A rs114948167
NM_003106.4(SOX2):c.575C>G (p.Ala192Gly)
NM_003106.4(SOX2):c.599A>G (p.Tyr200Cys) rs2473719360
NM_003106.4(SOX2):c.604G>A (p.Val202Met) rs754986575
NM_003106.4(SOX2):c.616C>T (p.Gln206Ter)
NM_003106.4(SOX2):c.687G>T (p.Gln229His) rs2108523127
NM_003106.4(SOX2):c.689A>T (p.Gln230Leu)
NM_003106.4(SOX2):c.694A>G (p.Thr232Ala) rs763171566
NM_003106.4(SOX2):c.718A>G (p.Met240Val)
NM_003106.4(SOX2):c.749C>G (p.Ser250Cys)
NM_003106.4(SOX2):c.799G>A (p.Ala267Thr) rs1576853632
NM_003106.4(SOX2):c.800C>T (p.Ala267Val) rs1399564699
NM_003106.4(SOX2):c.814G>A (p.Asp272Asn) rs2108523513
NM_003106.4(SOX2):c.871A>T (p.Arg291Ter)
NM_003106.4(SOX2):c.877C>A (p.His293Asn) rs1420160463
NM_003106.4(SOX2):c.890A>G (p.His297Arg) rs1338979266
NM_003106.4(SOX2):c.925A>T (p.Asn309Tyr) rs2108523882

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