ClinVar Miner

List of variants studied for 46,XY complete gonadal dysgenesis by Genome-Nilou Lab

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_032656.4(DHX37):c.1294-38T>C rs10773130 0.94401
NM_012082.4(ZFPM2):c.302-13C>T rs3735953 0.68152
NM_032656.4(DHX37):c.2579-7T>C rs4606565 0.56718
NM_032656.4(DHX37):c.2695+12T>C rs12367953 0.56686
NM_032656.4(DHX37):c.2793A>G (p.Ala931=) rs4429156 0.56645
NM_032656.4(DHX37):c.2605A>G (p.Ser869Gly) rs4516060 0.56530
NM_032656.4(DHX37):c.2598G>A (p.Glu866=) rs4258464 0.56360
NM_032656.4(DHX37):c.3242G>A (p.Arg1081Gln) rs4447263 0.55494
NM_032656.4(DHX37):c.2869-38G>A rs10773125 0.50743
NM_032656.4(DHX37):c.2046-6A>G rs4765007 0.50353
NM_032656.4(DHX37):c.738+13G>A rs4072887 0.39088
NM_032656.4(DHX37):c.288G>A (p.Met96Ile) rs11558556 0.36027
NM_032656.4(DHX37):c.2578+17T>G rs11831506 0.27400
NM_032656.4(DHX37):c.2696-26G>A rs6488959 0.25621
NM_032656.4(DHX37):c.3195C>T (p.Ala1065=) rs4078216 0.20190
NM_032656.4(DHX37):c.2331A>G (p.Thr777=) rs10773127

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