ClinVar Miner

List of variants studied for 46,XX sex reversal 4

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_004959.5(NR5A1):c.274C>T (p.Arg92Trp) rs886039769
NM_004959.5(NR5A1):c.275G>A (p.Arg92Gln) rs104894119
NM_004959.5(NR5A1):c.637_640dup (p.Pro214fs) rs1832447335
NM_004959.5(NR5A1):c.88T>C (p.Cys30Arg) rs1564153753

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