ClinVar Miner

List of variants studied for hypogonadotropic hypogonadism by Hadassah Hebrew University Medical Center

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg) rs104893836 0.00234
NM_000406.3(GNRHR):c.785G>A (p.Arg262Gln) rs104893837 0.00132
NM_025000.4(DCAF17):c.580C>T (p.Arg194Ter) rs1470826074 0.00001

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