ClinVar Miner

List of variants in gene SOX3 studied for X-linked intellectual disability with hypopituitarism

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_005634.3(SOX3):c.337G>A (p.Ala113Thr) rs1927341730 0.00001
NM_005634.3(SOX3):c.1265G>A (p.Arg422His)
NM_005634.3(SOX3):c.449C>A (p.Ser150Tyr) rs1556518231
NM_005634.3(SOX3):c.711_731del (p.Ala242_Ala248del) rs776775669
NM_005634.3(SOX3):c.712_744dup (p.Ala248_Ser249insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)
NM_005634.3(SOX3):c.735_737dup (p.Ala248dup) rs398124211
NM_005634.3(SOX3):c.791T>G (p.Val264Gly) rs1927323032

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