ClinVar Miner

List of variants studied for 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency by OMIM

Included ClinVar conditions (1):
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Total variants: 13
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HGVS dbSNP
NC_000002.12:g.(?_31524586)_(31580971_?)del
NM_000348.4(SRD5A2):c.164T>A (p.Leu55Gln) rs121434245
NM_000348.4(SRD5A2):c.344G>A (p.Gly115Asp) rs121434246
NM_000348.4(SRD5A2):c.468_470del (p.Met157del) rs587776566
NM_000348.4(SRD5A2):c.547G>A (p.Gly183Ser) rs121434247
NM_000348.4(SRD5A2):c.586G>A (p.Gly196Ser) rs121434250
NM_000348.4(SRD5A2):c.591G>T (p.Glu197Asp) rs121434253
NM_000348.4(SRD5A2):c.635C>G (p.Pro212Arg) rs121434252
NM_000348.4(SRD5A2):c.679C>T (p.Arg227Ter) rs121434248
NM_000348.4(SRD5A2):c.682G>A (p.Ala228Thr) rs121434249
NM_000348.4(SRD5A2):c.692A>G (p.His231Arg) rs121434251
NM_000348.4(SRD5A2):c.736C>T (p.Arg246Trp) rs121434244
NM_000348.4(SRD5A2):c.753del (p.Phe252fs) rs587776567

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