ClinVar Miner

List of variants reported as likely benign for 46,XY disorder of sex development of gynecological interest

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP
NC_000008.11:g.38150990G>A
NM_000044.6(AR):c.172_173insTGCAGCAGC (p.Gln58_Gln59insLeuGlnGln) rs1206863775
NM_000197.2(HSD17B3):c.333C>T (p.Asp111=) rs35189151
NM_000348.4(SRD5A2):c.*1356A>C rs28383087
NM_000348.4(SRD5A2):c.*981G>A
NM_000348.4(SRD5A2):c.702C>G (p.Phe234Leu) rs9332966
NM_000349.3(STAR):c.*456C>T
NM_000781.3(CYP11A1):c.1158-5C>T
NM_000781.3(CYP11A1):c.235G>A (p.Val79Ile) rs143655263
NM_000781.3(CYP11A1):c.366C>T (p.Leu122=) rs530494910
NM_000781.3(CYP11A1):c.650A>C (p.Glu217Ala) rs143879080
NM_000781.3(CYP11A1):c.830-14C>G rs190239248
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys) rs6161
NM_000941.3(POR):c.*207C>G
NM_000941.3(POR):c.1236C>T (p.Ser412=) rs41301424
NM_000941.3(POR):c.1953T>G (p.Ala651=)
NM_000941.3(POR):c.1959C>T (p.Leu653=)
NM_000941.3(POR):c.246C>T (p.Asn82=)
NM_000941.3(POR):c.344C>T (p.Ala115Val)
NM_000941.3(POR):c.399C>T (p.Asn133=) rs181837747
NM_000941.3(POR):c.531G>T (p.Gly177=)
NM_000941.3(POR):c.683C>T (p.Pro228Leu) rs17853284
NM_000941.3(POR):c.687C>T (p.Ala229=) rs72557906
NM_000941.3(POR):c.984C>T (p.Ala328=) rs72557941

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