ClinVar Miner

List of variants studied for Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001242908.2(RSPO1):c.-288-413_94+1957del
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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