ClinVar Miner

List of variants reported as pathogenic for 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency

Included ClinVar conditions (1):
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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001393392.1(AKR1C2):c.235A>G (p.Ile79Val) rs387906750
NM_001393392.1(AKR1C2):c.270T>G (p.His90Gln) rs797044460
NM_001393392.1(AKR1C2):c.666T>G (p.His222Gln) rs13222
NM_001393392.1(AKR1C2):c.899A>C (p.Asn300Thr) rs387906751

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