ClinVar Miner

List of variants reported as likely benign for anophthalmia/microphthalmia-esophageal atresia syndrome by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
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.64G>A (p.Gly22Ser) rs727504169 0.00014
NM_003106.4(SOX2):c.243T>G (p.Leu81=) rs141391454 0.00013
NM_003106.4(SOX2):c.397G>A (p.Ala133Thr) rs377110178 0.00006
NM_003106.4(SOX2):c.840C>G (p.Gly280=) rs767686608 0.00006
NM_003106.4(SOX2):c.33G>T (p.Pro11=) rs771068335 0.00005
NM_003106.4(SOX2):c.540C>T (p.Tyr180=) rs771521201 0.00004
NM_003106.4(SOX2):c.45G>A (p.Gln15=) rs776333710 0.00002
NM_003106.4(SOX2):c.429C>A (p.Val143=) rs753192651 0.00001
NM_003106.4(SOX2):c.150G>A (p.Val50=) rs145732415
NM_003106.4(SOX2):c.39C>A (p.Gly13=)
NM_003106.4(SOX2):c.423C>T (p.Ser141=)
NM_003106.4(SOX2):c.441C>T (p.Ala147=)
NM_003106.4(SOX2):c.468C>T (p.Arg156=) rs2108522598
NM_003106.4(SOX2):c.487A>G (p.Met163Val)
NM_003106.4(SOX2):c.52_53delinsAA (p.Ser18Lys)
NM_003106.4(SOX2):c.552G>A (p.Pro184=)
NM_003106.4(SOX2):c.555C>A (p.Gly185=)
NM_003106.4(SOX2):c.573A>G (p.Ala191=)
NM_003106.4(SOX2):c.828G>C (p.Met276Ile)
NM_003106.4(SOX2):c.837C>T (p.Pro279=)
NM_003106.4(SOX2):c.843C>T (p.Ala281=)
NM_003106.4(SOX2):c.852G>A (p.Pro284=)
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.912C>T (p.Pro304=)
NM_003106.4(SOX2):c.933A>T (p.Thr311=)
NM_003106.4(SOX2):c.936G>A (p.Leu312=)

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