ClinVar Miner

List of variants reported as likely pathogenic for Kallmann syndrome by Department of Urology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_023110.3(FGFR1):c.208G>A (p.Gly70Arg) rs140254426 0.00002
NM_023110.3(FGFR1):c.1043G>A (p.Gly348Glu) rs1818930617
NM_023110.3(FGFR1):c.211G>A (p.Val71Met) rs561300213
NM_023110.3(FGFR1):c.289G>C (p.Gly97Arg) rs1260404537
NM_023110.3(FGFR1):c.625C>T (p.Arg209Cys) rs1554564353
NM_023110.3(FGFR1):c.677G>A (p.Gly226Asp) rs1246231808
NM_023110.3(FGFR1):c.887A>G (p.Asn296Ser) rs1820048488

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