ClinVar Miner

List of variants in gene AKR1C2 reported as uncertain significance for 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency

Included ClinVar conditions (1):
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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001393392.1(AKR1C2):c.158_159del (p.His53fs) rs782217424 0.00031
NM_001393392.1(AKR1C2):c.827_828del (p.Arg276fs)

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