ClinVar Miner

List of variants in gene NR0B1 reported as pathogenic for 46,XY sex reversal 2

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NC_000023.10:g.(?_30322696)_(30327480_?)del
NC_000023.10:g.(?_30322696)_(30327480_?)dup
NC_000023.11:g.(?_30304206_30309390_?)dup
NM_000475.5(NR0B1):c.1037_1038insA (p.Ala347fs)
NM_000475.5(NR0B1):c.1042del (p.Glu348fs) rs1926563553
NM_000475.5(NR0B1):c.1099_1100insT (p.Lys367fs)
NM_000475.5(NR0B1):c.1104C>A (p.Cys368Ter) rs2519050843
NM_000475.5(NR0B1):c.1168+1del rs2147006209
NM_000475.5(NR0B1):c.1231_1234del (p.Leu411fs) rs1569268070
NM_000475.5(NR0B1):c.1286_1295del (p.Leu429fs) rs2519049357
NM_000475.5(NR0B1):c.1292del (p.Ser431fs) rs2519049362
NM_000475.5(NR0B1):c.159dup (p.Leu54fs) rs1926602170
NM_000475.5(NR0B1):c.184dup (p.Leu62fs)
NM_000475.5(NR0B1):c.226C>T (p.Gln76Ter) rs2147007353
NM_000475.5(NR0B1):c.25C>T (p.Gln9Ter) rs1191878631
NM_000475.5(NR0B1):c.271del (p.Tyr91fs) rs2519051970
NM_000475.5(NR0B1):c.292G>T (p.Glu98Ter) rs2519051933
NM_000475.5(NR0B1):c.327C>A (p.Cys109Ter) rs1555973172
NM_000475.5(NR0B1):c.382_425dup (p.Gln142fs) rs2519051723
NM_000475.5(NR0B1):c.405T>A (p.Cys135Ter) rs1214621343
NM_000475.5(NR0B1):c.418_452del (p.His139_Pro140insTer) rs2519051714
NM_000475.5(NR0B1):c.501del (p.Gly169fs) rs1569268976
NM_000475.5(NR0B1):c.509_510dup (p.Trp171fs) rs2519051604
NM_000475.5(NR0B1):c.516G>A (p.Trp172Ter) rs1555973131
NM_000475.5(NR0B1):c.528C>G (p.Tyr176Ter) rs767828388
NM_000475.5(NR0B1):c.552del (p.Glu185fs) rs1555973115
NM_000475.5(NR0B1):c.564_567dup (p.Gly190fs)
NM_000475.5(NR0B1):c.603_604del (p.Phe201fs)
NM_000475.5(NR0B1):c.664C>T (p.Gln222Ter) rs2519051360
NM_000475.5(NR0B1):c.708G>A (p.Trp236Ter) rs1131691564
NM_000475.5(NR0B1):c.901C>T (p.Gln301Ter) rs1555973010
NM_000475.5(NR0B1):c.919G>T (p.Glu307Ter) rs1324519932
NM_000475.5(NR0B1):c.986_987delinsA (p.Gly329fs) rs1926565907

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