ClinVar Miner

List of variants studied for indeterminate sex and/or pseudohermaphroditism by Genome Diagnostics Laboratory, University Medical Center Utrecht

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000479.5(AMH):c.1239T>A (p.Gly413=) rs7252789 0.88393
NM_000479.5(AMH):c.146G>T (p.Ser49Ile) rs10407022 0.74147
NM_020547.3(AMHR2):c.622-6C>T rs2071558 0.16377

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