ClinVar Miner

List of variants studied for hypogonadotropic hypogonadism 2 with or without anosmia by Genomics England Pilot Project, Genomics England

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_023110.3(FGFR1):c.1042G>A (p.Gly348Arg) rs886037634
NM_023110.3(FGFR1):c.1825C>T (p.Arg609Ter) rs121909639
NM_023110.3(FGFR1):c.1864C>T (p.Arg622Ter) rs121909628
NM_023110.3(FGFR1):c.2122G>T (p.Glu708Ter) rs2150533516

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