ClinVar Miner

List of variants reported as pathogenic for 46,XY disorder of sex development of gynecological interest by Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 60
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HGVS dbSNP
NM_000044.6(AR):c.1185C>A (p.Tyr395Ter) rs1555969807
NM_000044.6(AR):c.1688G>A (p.Cys563Tyr) rs1555982860
NM_000044.6(AR):c.1739G>A (p.Cys580Tyr) rs137852586
NM_000044.6(AR):c.1768+2T>C rs1555982894
NM_000044.6(AR):c.1888del (p.Arg630fs) rs1555995750
NM_000044.6(AR):c.2044G>A (p.Glu682Lys) rs1555995816
NM_000044.6(AR):c.2086G>A (p.Asp696Asn) rs1555995840
NM_000044.6(AR):c.2104C>T (p.Leu702Phe) rs1555995851
NM_000044.6(AR):c.2117A>G (p.Asn706Ser) rs925822435
NM_000044.6(AR):c.214C>T (p.Gln72Ter) rs1555969512
NM_000044.6(AR):c.2155T>C (p.Trp719Arg) rs1555995865
NM_000044.6(AR):c.2171C>T (p.Pro724Leu) rs1555995877
NM_000044.6(AR):c.217C>T (p.Gln73Ter) rs1199988820
NM_000044.6(AR):c.220C>T (p.Gln74Ter) rs886041129
NM_000044.6(AR):c.2258G>A (p.Arg753Gln) rs1057523747
NM_000044.6(AR):c.2266del (p.Thr756fs) rs1555996855
NM_000044.6(AR):c.2296G>A (p.Ala766Thr) rs1555996863
NM_000044.6(AR):c.2299C>G (p.Pro767Ala) rs1555996867
NM_000044.6(AR):c.2323C>T (p.Arg775Cys) rs137852562
NM_000044.6(AR):c.2343G>A (p.Met781Ile) rs137852589
NM_000044.6(AR):c.2437C>T (p.Leu813Phe) rs1555997625
NM_000044.6(AR):c.2521C>T (p.Arg841Cys) rs137852577
NM_000044.6(AR):c.2522G>A (p.Arg841His) rs9332969
NM_000044.6(AR):c.2562_2563del (p.Arg855fs) rs1555997799
NM_000044.6(AR):c.2566C>T (p.Arg856Cys) rs886041132
NM_000044.6(AR):c.2567G>A (p.Arg856His) rs9332971
NM_000044.6(AR):c.2593G>A (p.Asp865Asn) rs1555997810
NM_000044.6(AR):c.2599G>A (p.Val867Met) rs137852564
NM_000044.6(AR):c.2612C>T (p.Ala871Val) rs143040492
NM_000044.6(AR):c.2613del (p.Arg872fs) rs1555998085
NM_000044.6(AR):c.2667C>T (p.Ser889=) rs137852594
NM_000044.6(AR):c.2668G>A (p.Val890Met) rs886041133
NM_000044.6(AR):c.2683_2685ATG[1] (p.Met896del) rs1555998102
NM_000044.6(AR):c.2720_2721del (p.Ile907fs) rs1555998114
NM_000044.6(AR):c.475G>A (p.Ala159Thr) rs370215797
NM_000044.6(AR):c.743G>T (p.Gly248Val) rs1555969682
NM_000044.6(AR):c.796dup (p.Asp266fs) rs1555969694
NM_000348.4(SRD5A2):c.145G>A (p.Ala49Thr) rs9282858
NM_000348.4(SRD5A2):c.169G>C (p.Glu57Gln) rs750444774
NM_000348.4(SRD5A2):c.16C>T (p.Gln6Ter) rs9332960
NM_000348.4(SRD5A2):c.205G>T (p.Ala69Ser) rs1553329443
NM_000348.4(SRD5A2):c.271T>C (p.Tyr91His) rs201175894
NM_000348.4(SRD5A2):c.271T>G (p.Tyr91Asp) rs201175894
NM_000348.4(SRD5A2):c.282-2A>G rs1340425455
NM_000348.4(SRD5A2):c.344G>A (p.Gly115Asp) rs121434246
NM_000348.4(SRD5A2):c.377A>G (p.Gln126Arg) rs368386747
NM_000348.4(SRD5A2):c.534C>A (p.Tyr178Ter) rs1200261940
NM_000348.4(SRD5A2):c.547G>A (p.Gly183Ser) rs121434247
NM_000348.4(SRD5A2):c.578A>G (p.Asn193Ser) rs763296857
NM_000348.4(SRD5A2):c.586G>A (p.Gly196Ser) rs121434250
NM_000348.4(SRD5A2):c.598G>A (p.Glu200Lys) rs756853742
NM_000348.4(SRD5A2):c.59T>C (p.Leu20Pro) rs761824859
NM_000348.4(SRD5A2):c.607G>A (p.Gly203Ser) rs9332961
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.680G>A (p.Arg227Gln) rs9332964
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.729del (p.Lys244fs) rs1553323033
NM_000348.4(SRD5A2):c.737G>A (p.Arg246Gln) rs9332967

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