ClinVar Miner

List of variants reported as uncertain significance for 46,XY sex reversal 3 by 3billion

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_004959.5(NR5A1):c.1138+5G>A rs1832300085
NM_004959.5(NR5A1):c.164G>A (p.Cys55Tyr)
NM_004959.5(NR5A1):c.284T>C (p.Phe95Ser) rs2131287358
NM_004959.5(NR5A1):c.721C>T (p.Arg241Trp) rs1832445795
NM_004959.5(NR5A1):c.89G>A (p.Cys30Tyr) rs2131289962

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