ClinVar Miner

List of variants studied for 46,XY sex reversal 3 by Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_004959.5(NR5A1):c.250C>T (p.Arg84Cys) rs1832458239 0.00001
NM_004959.5(NR5A1):c.19G>T (p.Glu7Ter) rs2131290040
NM_004959.5(NR5A1):c.97T>C (p.Cys33Arg) rs1832496590

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