ClinVar Miner

List of variants in gene SOX3 studied for panhypopituitarism, X-linked

Included ClinVar conditions (2):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_005634.3(SOX3):c.753G>C (p.Pro251=)	rs557384424	0.00001
NM_005634.3(SOX3):c.711_731del (p.Ala242_Ala248del)	rs776775669
NM_005634.3(SOX3):c.711_731dup (p.Ala248_Ser249insAlaAlaAlaAlaAlaAlaAla)
SOX3, DUP

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