ClinVar Miner

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

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001393392.1(AKR1C2):c.441A>G (p.Thr147=) rs3207909 0.15144
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.827_828del (p.Arg276fs)
NM_001393392.1(AKR1C2):c.899A>C (p.Asn300Thr) rs387906751

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