ClinVar Miner

List of variants in gene SRD5A2 reported as uncertain significance for 46,XY disorder of sex development of gynecological interest

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
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HGVS dbSNP
NM_000348.3(SRD5A2):c.-55G>A rs577957973
NM_000348.3(SRD5A2):c.-64A>G rs886055956
NM_000348.3(SRD5A2):c.446-10_446-8delCTT rs758063160
NM_000348.4(SRD5A2):c.*1133A>G rs886055949
NM_000348.4(SRD5A2):c.*1151_*1152dup rs74702388
NM_000348.4(SRD5A2):c.*1152del rs74702388
NM_000348.4(SRD5A2):c.*1290C>G rs549077867
NM_000348.4(SRD5A2):c.*1356A>C rs28383087
NM_000348.4(SRD5A2):c.*286A>G rs886055952
NM_000348.4(SRD5A2):c.*43G>A rs28383082
NM_000348.4(SRD5A2):c.*614T>A rs886055951
NM_000348.4(SRD5A2):c.*686G>T rs886055950
NM_000348.4(SRD5A2):c.*88_*91delinsACCTATATATATATATATATATAT rs886055954
NM_000348.4(SRD5A2):c.*90_*91delinsATATATATATATATATATATATATATATATATATAT rs886055953
NM_000348.4(SRD5A2):c.*90_*91delinsATATATATATATATATATATATATATATATATATATAT rs886055953
NM_000348.4(SRD5A2):c.143C>T (p.Pro48Leu)
NM_000348.4(SRD5A2):c.230G>A (p.Gly77Glu) rs886055955
NM_000348.4(SRD5A2):c.358A>C (p.Thr120Pro)
NM_000348.4(SRD5A2):c.385T>G (p.Tyr129Asp) rs1553324169
NM_000348.4(SRD5A2):c.537G>A (p.Arg179=) rs767928056
NM_000348.4(SRD5A2):c.548-5C>G rs753272225
NM_000348.4(SRD5A2):c.548-9T>G rs1057519061
NM_000348.4(SRD5A2):c.554T>C (p.Leu185Ser) rs574377752
NM_000348.4(SRD5A2):c.586G>A (p.Gly196Ser) rs121434250
NM_000348.4(SRD5A2):c.623C>T (p.Thr208Ile) rs759318152
NM_000348.4(SRD5A2):c.695A>G (p.His232Arg) rs748899308

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