ClinVar Miner

List of variants studied for 46,XY sex reversal 3 by OMIM

Included ClinVar conditions (2):
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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_004959.5(NR5A1):c.104_105delinsAA (p.Gly35Glu) rs121918654
NM_004959.5(NR5A1):c.1058_1065del (p.Glu353fs)
NM_004959.5(NR5A1):c.1310T>A (p.Leu437Gln) rs104894120
NM_004959.5(NR5A1):c.18del (p.Asp6fs) rs606231205
NM_004959.5(NR5A1):c.234G>A (p.Met78Ile) rs104894125
NM_004959.5(NR5A1):c.271G>A (p.Gly91Ser) rs104894126
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.390del (p.Pro131fs) rs606231207
NM_004959.5(NR5A1):c.3G>A (p.Met1Ile) rs121918656
NM_004959.5(NR5A1):c.43G>A (p.Val15Met) rs104894124
NM_004959.5(NR5A1):c.48C>A (p.Cys16Ter) rs104894123
NM_004959.5(NR5A1):c.666del (p.Asn222fs) rs606231206
NM_004959.5(NR5A1):c.877G>A (p.Asp293Asn) rs121918655

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