ClinVar Miner

List of variants reported as pathogenic for Kallmann syndrome by OMIM

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_001127496.3(SPRY4):c.841G>A (p.Val281Ile) rs142439525 0.00522
NM_144773.4(PROKR2):c.518T>G (p.Leu173Arg) rs74315416 0.00220
NM_001127496.3(SPRY4):c.461A>G (p.Lys154Arg) rs78310959 0.00120
NM_033163.5(FGF8):c.77C>T (p.Pro26Leu) rs137852660 0.00079
NM_001059.3(TACR3):c.824G>A (p.Trp275Ter) rs144292455 0.00039
NM_000216.4(ANOS1):c.1187C>T (p.Ser396Leu) rs137852517 0.00038
NM_018117.12(WDR11):c.3450T>G (p.Phe1150Leu) rs139007744 0.00031
NM_018117.12(WDR11):c.1303G>A (p.Ala435Thr) rs318240760 0.00020
NM_001946.4(DUSP6):c.566A>G (p.Asn189Ser) rs143946794 0.00018
NM_001126128.2(PROK2):c.94G>C (p.Gly32Arg) rs104893767 0.00014
NM_001126128.2(PROK2):c.163del (p.Ser54_Ile55insTer) rs554675432 0.00013
NM_017780.4(CHD7):c.2613+5G>A rs202143667 0.00008
NM_001126128.2(PROK2):c.217C>T (p.Arg73Cys) rs121434272 0.00005
NM_144773.4(PROKR2):c.533G>C (p.Trp178Ser) rs201835496 0.00003
NM_144773.4(PROKR2):c.629A>G (p.Gln210Arg) rs74315417 0.00003
NM_001059.3(TACR3):c.278G>A (p.Gly93Asp) rs121918124 0.00001
NM_001126128.2(PROK2):c.101G>A (p.Cys34Tyr) rs587777864 0.00001
NM_001126128.2(PROK2):c.70G>C (p.Ala24Pro) rs587777863 0.00001
NM_017780.4(CHD7):c.164A>G (p.His55Arg) rs121434345 0.00001
NM_033163.5(FGF8):c.379C>G (p.Arg127Gly) rs137852663 0.00001
NM_144773.4(PROKR2):c.343G>A (p.Val115Met) rs138672528 0.00001
NG_007088.2:g.(37490_113516)_(149394_151790)del
NG_007088.2:g.(37490_113516)_(151921_166482)del
NG_007088.2:g.(37490_113516)_(202869_204133)del
NM_000216.4(ANOS1):c.1062+1G>T rs387906427
NM_000216.4(ANOS1):c.1540G>A (p.Glu514Lys) rs137852515
NM_000216.4(ANOS1):c.1842+412_*1083del
NM_000216.4(ANOS1):c.544_726+2del rs2146819139
NM_000216.4(ANOS1):c.711G>A (p.Trp237Ter) rs137852512
NM_000216.4(ANOS1):c.769C>T (p.Arg257Ter) rs137852513
NM_000216.4(ANOS1):c.774G>A (p.Trp258Ter) rs137852514
NM_000216.4(ANOS1):c.784C>T (p.Arg262Ter) rs137852516
NM_000216.4(ANOS1):c.831del (p.Ser278fs) rs2146817110
NM_000216.4(ANOS1):c.95_105dup (p.Asp36fs) rs2146919315
NM_001059.3(TACR3):c.1057C>T (p.Pro353Ser) rs121918125
NM_001059.3(TACR3):c.766T>C (p.Tyr256His) rs397515483
NM_001126128.2(PROK2):c.297dup (p.Gly100fs) rs768413190
NM_001127496.3(SPRY4):c.46G>A (p.Val16Ile) rs587776981
NM_001946.4(DUSP6):c.229T>A (p.Phe77Ile) rs587776978
NM_003867.4(FGF17):c.560A>G (p.Asn187Ser) rs398123026
NM_017780.4(CHD7):c.2442+5G>C rs387906271
NM_023110.3(FGFR1):c.142G>A (p.Gly48Ser) rs121909640
NM_023110.3(FGFR1):c.2038C>T (p.Gln680Ter) rs121909636
NM_023110.3(FGFR1):c.2292G>T (p.Gln764His) rs121909643
NM_033163.5(FGF8):c.118T>C (p.Phe40Leu) rs137852661
NM_033163.5(FGF8):c.298A>G (p.Lys100Glu) rs137852662
NM_033163.5(FGF8):c.379C>T (p.Arg127Ter) rs137852663
NM_033163.5(FGF8):c.385C>T (p.Arg129Ter) rs876661330
NM_033163.5(FGF8):c.40C>A (p.His14Asn) rs137852659
NM_144773.4(PROKR2):c.254G>A (p.Arg85His) rs74315418
NM_144773.4(PROKR2):c.58del (p.His20fs) rs587777834
NM_144773.4(PROKR2):c.969G>A (p.Met323Ile) rs74315419
NM_198391.3(FLRT3):c.1016A>G (p.Lys339Arg) rs398124654

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