ClinVar Miner

List of variants reported as likely pathogenic 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: 44
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HGVS dbSNP
NC_000002.11:g.(?_31756421)_(31756562_?)del
NC_000023.10:g.(?_66863078)_(66905988_?)dup
NM_000044.6(AR):c.1685T>C (p.Ile562Thr) rs886041050
NM_000044.6(AR):c.1768+2T>C rs1555982894
NM_000044.6(AR):c.1805G>A (p.Cys602Tyr) rs1555990470
NM_000044.6(AR):c.1850T>C (p.Leu617Pro) rs1555990488
NM_000044.6(AR):c.2053G>A (p.Val685Ile) rs1555995822
NM_000044.6(AR):c.2090C>A (p.Ser697Tyr) rs1555995842
NM_000044.6(AR):c.2103G>T (p.Leu701Phe) rs1555995848
NM_000044.6(AR):c.2239G>A (p.Val747Met)
NM_000044.6(AR):c.2698A>T (p.Ile900Phe) rs1555998108
NM_000102.4(CYP17A1):c.1241C>T (p.Pro414Leu) rs1554879846
NM_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs) rs556794126
NM_000197.1(HSD17B3):c.[194C>T];[239G>A]
NM_000198.4(HSD3B2):c.1064G>A (p.Trp355Ter) rs767128094
NM_000348.4(SRD5A2):c.548-2A>C rs61750397
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) rs9332964
NM_000348.4(SRD5A2):c.682G>A (p.Ala228Thr) rs121434249
NM_000348.4(SRD5A2):c.683C>T (p.Ala228Val) rs1553323488
NM_000348.4(SRD5A2):c.725A>G (p.Tyr242Cys) rs1553323036
NM_000349.3(STAR):c.135del (p.Ser46fs) rs193922393
NM_000349.3(STAR):c.178+1G>C rs1554503011
NM_000349.3(STAR):c.179-2A>G rs1554502986
NM_000349.3(STAR):c.229C>T (p.Gln77Ter) rs781281145
NM_000349.3(STAR):c.296_297AG[1] (p.Gln101fs) rs765904696
NM_000349.3(STAR):c.505G>A (p.Glu169Lys) rs747169620
NM_000349.3(STAR):c.544C>T (p.Arg182Cys) rs369232492
NM_000349.3(STAR):c.545G>A (p.Arg182His) rs104894086
NM_000349.3(STAR):c.559G>A (p.Val187Met) rs104894089
NM_000349.3(STAR):c.629_630del (p.Pro210fs) rs771895449
NM_000349.3(STAR):c.64+2T>C rs1298369560
NM_000349.3(STAR):c.651-1G>C rs749626865
NM_000349.3(STAR):c.677del (p.Val226fs) rs1554502732
NM_000349.3(STAR):c.695del (p.Gly232fs) rs757367795
NM_000349.3(STAR):c.714del (p.Lys238fs) rs1417088430
NM_000349.3(STAR):c.716_732del (p.Leu239fs) rs1554502725
NM_000349.3(STAR):c.745-1_757del rs1554502668
NM_000349.3(STAR):c.779T>C (p.Leu260Pro) rs551783234
NM_000349.3(STAR):c.801dup (p.Ala268fs) rs1554502663
NM_000349.3(STAR):c.811del (p.Leu271fs) rs1350908961
NM_000781.3(CYP11A1):c.968T>A (p.Met323Lys) rs886041121
NM_000941.3(POR):c.1363del (p.Gln455fs) rs781805159
NM_000941.3(POR):c.1370G>A (p.Arg457His) rs28931608
NM_000941.3(POR):c.188+2T>C

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