ClinVar Miner

List of variants reported as risk factor for Kallmann syndrome by OMIM

Included ClinVar conditions (30):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_006080.3(SEMA3A):c.1303G>A (p.Val435Ile) rs147436181 0.01250
NM_001127496.3(SPRY4):c.653C>A (p.Ser218Tyr) rs139512218 0.00510
NM_001946.4(DUSP6):c.545C>T (p.Ser182Phe) rs139318648 0.00162
NM_001946.4(DUSP6):c.1037C>T (p.Thr346Met) rs146089505 0.00019
NM_023110.3(FGFR1):c.1409G>T (p.Arg470Leu) rs121909637 0.00010
NM_032551.5(KISS1R):c.581C>A (p.Ala194Asp) rs397514699 0.00009
NM_006080.3(SEMA3A):c.1372G>A (p.Val458Ile) rs553661856 0.00004
NM_006080.3(SEMA3A):c.1850G>A (p.Arg617Gln) rs919402688 0.00001
NC_000007.14:g.(83833300_?)_(?_84046323)del
NM_001130969.3(NSMF):c.1132-23_1132-15del rs606231136
NM_001130969.3(NSMF):c.1438A>G (p.Thr480Ala) rs121918340
NM_003867.4(FGF17):c.323T>C (p.Ile108Thr) rs398123024
NM_006080.3(SEMA3A):c.1613_1626del (p.Asp538fs)
NM_006080.3(SEMA3A):c.590G>A (p.Arg197Gln) rs1404070020
NM_023110.2(FGFR1):c.[2165C>A;2172C>G]
NM_023110.3(FGFR1):c.1864C>T (p.Arg622Ter) rs121909628
NM_023110.3(FGFR1):c.2302G>T (p.Asp768Tyr) rs121909644
NM_023110.3(FGFR1):c.709G>A (p.Gly237Ser) rs121909635
NM_023110.3(FGFR1):c.749G>A (p.Arg250Gln) rs121909645

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