ClinVar Miner

List of variants reported as likely pathogenic for 46,XY sex reversal 3

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Total variants: 14
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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.1073T>C (p.Leu358Pro) rs2131277648
NM_004959.5(NR5A1):c.1090G>T (p.Asp364Tyr) rs2131277629
NM_004959.5(NR5A1):c.140A>G (p.Tyr47Cys) rs2131289790
NM_004959.5(NR5A1):c.15C>A (p.Tyr5Ter)
NM_004959.5(NR5A1):c.251G>A (p.Arg84His) rs375469069
NM_004959.5(NR5A1):c.274C>T (p.Arg92Trp) rs886039769
NM_004959.5(NR5A1):c.44T>C (p.Val15Ala) rs2131290009
NM_004959.5(NR5A1):c.455_536del (p.Leu152fs) rs1588621944
NM_004959.5(NR5A1):c.61T>G (p.Ser21Ala)
NM_004959.5(NR5A1):c.937C>T (p.Arg313Cys) rs1057517779
NM_004959.5(NR5A1):c.938G>T (p.Arg313Leu) rs1554721235
NM_004959.5(NR5A1):c.97T>C (p.Cys33Arg) rs1832496590
NM_004959.5(NR5A1):c.990G>A (p.Glu330=) rs1588618614

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