ClinVar Miner

List of variants studied for 46,XY disorder of sex development by Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000348.4(SRD5A2):c.211C>T (p.Gln71Ter) rs1060499834 0.00001
NM_000044.6(AR):c.1685T>C (p.Ile562Thr) rs886041050
NM_000348.3(SRD5A2):c.[548-9T>G];[680G>A]
NM_000348.3(SRD5A2):c.[680G>A];[694C>G]
NM_000348.4(SRD5A2):c.725A>G (p.Tyr242Cys) rs1553323036
NM_000781.3(CYP11A1):c.937T>C (p.Phe313Leu) rs1060499732
NM_000781.3(CYP11A1):c.968T>A (p.Met323Lys) rs886041121
NM_004959.5(NR5A1):c.274C>T (p.Arg92Trp) rs886039769
NM_005921.2(MAP3K1):c.1923G>A (p.Met641Ile) rs886041049
NM_021951.3(DMRT1):c.332G>T (p.Arg111Met) rs1057519638

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