ClinVar Miner

List of variants in gene RAP1GDS1 studied for Alfadhel syndrome

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001100427.2(RAP1GDS1):c.1300+1G>A
NM_001100427.2(RAP1GDS1):c.1441-1G>A rs2110217457
NM_001100427.2(RAP1GDS1):c.80del (p.Leu27fs)

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