ClinVar Miner

List of variants in gene RSPO1 studied for 46,XX disorder of sex development

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001242908.2(RSPO1):c.108dup (p.Ser37Glufs*9) rs2148163144
NM_001242908.2(RSPO1):c.115G>A (p.Ala39Thr) rs201499112
NM_001242908.2(RSPO1):c.254del (p.Asp85fs)

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