ClinVar Miner

List of variants reported as pathogenic for 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) rs9332964 0.00016
NM_000348.4(SRD5A2):c.692A>G (p.His231Arg) rs121434251 0.00016
NM_000348.4(SRD5A2):c.547G>A (p.Gly183Ser) rs121434247 0.00015
NM_000348.4(SRD5A2):c.586G>A (p.Gly196Ser) rs121434250 0.00015
NM_000348.4(SRD5A2):c.377A>G (p.Gln126Arg) rs368386747 0.00009
NM_000348.4(SRD5A2):c.737G>A (p.Arg246Gln) rs9332967 0.00009
NM_000348.4(SRD5A2):c.635C>G (p.Pro212Arg) rs121434252 0.00006
NM_000348.4(SRD5A2):c.679C>T (p.Arg227Ter) rs121434248 0.00004
NM_000348.4(SRD5A2):c.578A>G (p.Asn193Ser) rs763296857 0.00003
NM_000348.4(SRD5A2):c.736C>T (p.Arg246Trp) rs121434244 0.00003
NM_000348.4(SRD5A2):c.16C>T (p.Gln6Ter) rs9332960 0.00002
NM_000348.4(SRD5A2):c.344G>A (p.Gly115Asp) rs121434246 0.00002
NM_000348.4(SRD5A2):c.598G>A (p.Glu200Lys) rs756853742 0.00002
NM_000348.4(SRD5A2):c.607G>A (p.Gly203Ser) rs9332961 0.00002
NM_000348.4(SRD5A2):c.695A>G (p.His232Arg) rs748899308 0.00002
NM_000348.4(SRD5A2):c.100G>A (p.Gly34Arg) rs782032018 0.00001
NM_000348.4(SRD5A2):c.169G>C (p.Glu57Gln) rs750444774 0.00001
NM_000348.4(SRD5A2):c.211C>T (p.Gln71Ter) rs1060499834 0.00001
NM_000348.4(SRD5A2):c.542C>T (p.Pro181Leu) rs1057517829 0.00001
NM_000348.4(SRD5A2):c.591G>T (p.Glu197Asp) rs121434253 0.00001
NM_000348.4(SRD5A2):c.59T>C (p.Leu20Pro) rs761824859 0.00001
NM_000348.4(SRD5A2):c.620C>A (p.Ala207Asp) rs767564684 0.00001
NM_000348.4(SRD5A2):c.704A>T (p.Tyr235Phe) rs772283403 0.00001
NC_000002.11:g.(?_31751266)_(31751352_?)del
NC_000002.11:g.(?_31751266)_(31758856_?)del
NC_000002.11:g.(?_31751266)_(31805969_?)del
NC_000002.11:g.(?_31758653)_(31758856_?)del
NC_000002.11:g.(?_31805670)_(31805969_?)del
NM_000348.4(SRD5A2):c.100G>C (p.Gly34Arg) rs782032018
NM_000348.4(SRD5A2):c.102del (p.Lys35fs)
NM_000348.4(SRD5A2):c.115_137del (p.Ser39fs)
NM_000348.4(SRD5A2):c.144del (p.Ala49fs)
NM_000348.4(SRD5A2):c.158G>A (p.Trp53Ter)
NM_000348.4(SRD5A2):c.164T>A (p.Leu55Gln) rs121434245
NM_000348.4(SRD5A2):c.167A>G (p.Gln56Arg)
NM_000348.4(SRD5A2):c.193G>C (p.Ala65Pro) rs1186430097
NM_000348.4(SRD5A2):c.196G>A (p.Gly66Arg)
NM_000348.4(SRD5A2):c.19C>T (p.Gln7Ter)
NM_000348.4(SRD5A2):c.271T>C (p.Tyr91His) rs201175894
NM_000348.4(SRD5A2):c.307C>T (p.Arg103Ter) rs267599353
NM_000348.4(SRD5A2):c.312del (p.Arg105fs)
NM_000348.4(SRD5A2):c.317del (p.Pro106fs) rs767595335
NM_000348.4(SRD5A2):c.357del (p.Phe118_Cys119insTer) rs2148066893
NM_000348.4(SRD5A2):c.383A>G (p.Tyr128Cys)
NM_000348.4(SRD5A2):c.418del (p.Trp140fs)
NM_000348.4(SRD5A2):c.431dup (p.Arg145fs)
NM_000348.4(SRD5A2):c.492_493insGA (p.Tyr165fs)
NM_000348.4(SRD5A2):c.513G>C (p.Arg171Ser)
NM_000348.4(SRD5A2):c.544C>T (p.Gln182Ter)
NM_000348.4(SRD5A2):c.547+1G>C
NM_000348.4(SRD5A2):c.564del (p.Thr187_Tyr188insTer)
NM_000348.4(SRD5A2):c.602G>A (p.Trp201Ter)
NM_000348.4(SRD5A2):c.623C>T (p.Thr208Ile) rs759318152
NM_000348.4(SRD5A2):c.656del (p.Phe219fs) rs61748127
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.687del (p.His230fs)
NM_000348.4(SRD5A2):c.689A>C (p.His230Pro)
NM_000348.4(SRD5A2):c.698+1G>T
NM_000348.4(SRD5A2):c.81_94delCGCGAAGCCCTCCG (p.Ala28Leufs)
NM_000348.4(SRD5A2):c.82_88del (p.Ala28fs)

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