ClinVar Miner

List of variants in gene NR0B1 studied for 46,XY sex reversal 2

Included ClinVar conditions (2):
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Total variants: 8
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HGVS dbSNP
NM_000475.5(NR0B1):c.1142T>C (p.Leu381Pro) rs104894899
NM_000475.5(NR0B1):c.516G>A (p.Trp172Ter) rs1555973131
NM_000475.5(NR0B1):c.528C>G (p.Tyr176Ter)
NM_000475.5(NR0B1):c.552del (p.Glu185fs) rs1555973115
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
NR0B1, DUP

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