ClinVar Miner

List of variants in gene SOHLH1 studied for 46 XX gonadal dysgenesis

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001101677.2(SOHLH1):c.27C>G (p.Tyr9Ter) rs864309646
NM_001101677.2(SOHLH1):c.397C>T (p.Gln133Ter)
NM_001101677.2(SOHLH1):c.705del (p.Lys236fs) rs864309645

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