ClinVar Miner

List of variants studied for ovarian dysgenesis 6

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_020401.4(NUP107):c.353G>A (p.Arg118His) rs34347775 0.00324
NM_020401.4(NUP107):c.1064G>A (p.Arg355His) rs747135247 0.00020
NM_020401.4(NUP107):c.1339G>A (p.Asp447Asn) rs1555178358

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