ClinVar Miner

List of variants in gene SOX2, SOX2-OT studied for anophthalmia/microphthalmia-esophageal atresia syndrome

Included ClinVar conditions (2):
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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_003106.4(SOX2):c.834C>T (p.Leu278=) rs144530684 0.00166
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 0.00014
NM_003106.4(SOX2):c.571G>A (p.Ala191Thr) rs104893808 0.00013
NM_003106.4(SOX2):c.840C>G (p.Gly280=) rs767686608 0.00006
NM_003106.4(SOX2):c.560A>G (p.Asn187Ser) rs1394727952 0.00001
GRCh37/hg19 3q26.33(chr3:180913778-181432287)x1
NM_003106.4(SOX2):c.555C>A (p.Gly185=)
NM_003106.4(SOX2):c.573A>G (p.Ala191=)
NM_003106.4(SOX2):c.582_583delinsTT (p.Met194_Gln195delinsIleTer) rs1714864777
NM_003106.4(SOX2):c.589A>G (p.Met197Val) rs1438385283
NM_003106.4(SOX2):c.591G>A (p.Met197Ile)
NM_003106.4(SOX2):c.600C>G (p.Tyr200Ter) rs1714865486
NM_003106.4(SOX2):c.621C>A (p.Tyr207Ter)
NM_003106.4(SOX2):c.694A>G (p.Thr232Ala)
NM_003106.4(SOX2):c.700G>A (p.Gly234Ser)
NM_003106.4(SOX2):c.742G>T (p.Ala248Ser)
NM_003106.4(SOX2):c.764_767dup (p.Ser257fs) rs2108523389
NM_003106.4(SOX2):c.790C>A (p.Pro264Thr)
NM_003106.4(SOX2):c.819G>C (p.Met273Ile)
NM_003106.4(SOX2):c.828G>C (p.Met276Ile)
NM_003106.4(SOX2):c.828del (p.Met276fs) rs1714875635
NM_003106.4(SOX2):c.837C>T (p.Pro279=)
NM_003106.4(SOX2):c.837del (p.Gly280fs) rs398122916
NM_003106.4(SOX2):c.841_860delinsACCTCGG (p.Ala281fs) rs1560264973
NM_003106.4(SOX2):c.842C>G (p.Ala281Gly)
NM_003106.4(SOX2):c.843C>T (p.Ala281=)
NM_003106.4(SOX2):c.852G>A (p.Pro284=)
NM_003106.4(SOX2):c.859G>C (p.Ala287Pro) rs760688357
NM_003106.4(SOX2):c.861C>G (p.Ala287=) rs199971071
NM_003106.4(SOX2):c.861C>T (p.Ala287=) rs199971071
NM_003106.4(SOX2):c.890A>G (p.His297Arg) rs1338979266
NM_003106.4(SOX2):c.909G>C (p.Val303=)
NM_003106.4(SOX2):c.912C>T (p.Pro304=)
NM_003106.4(SOX2):c.921_930del (p.Ile308fs) rs1714882477
NM_003106.4(SOX2):c.933A>T (p.Thr311=)
NM_003106.4(SOX2):c.936G>A (p.Leu312=)
NM_003106.4(SOX2):c.941del (p.Leu314fs) rs1714883776
NM_003106.4(SOX2):c.943_944del (p.Ser315fs) rs1714883683

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