ClinVar Miner

List of variants reported as likely pathogenic for 46,XY sex reversal 3 by Genetic Services Laboratory, University of Chicago

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_004959.5(NR5A1):c.937C>T (p.Arg313Cys) rs1057517779
NM_004959.5(NR5A1):c.938G>T (p.Arg313Leu) rs1554721235

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