ClinVar Miner

List of variants studied for Kallmann syndrome by Genome-Nilou Lab

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_017563.5(IL17RD):c.868+29T>C rs2247656 0.85070
NM_017563.5(IL17RD):c.660T>C (p.His220=) rs1545981 0.85069
NM_017780.4(CHD7):c.2238+39G>A rs4540437 0.83608
NM_032551.5(KISS1R):c.1091T>A (p.Leu364His) rs350132 0.80022
NM_017780.4(CHD7):c.2614-45A>G rs6471902 0.79408
NM_017563.5(IL17RD):c.1531T>C (p.Leu511=) rs2291462 0.78630
NM_017780.4(CHD7):c.4533+46A>G rs7844902 0.77651
NM_017780.4(CHD7):c.2376+43_2376+48dup rs5891777 0.76905
NM_017780.4(CHD7):c.1665+34G>A rs7836586 0.76770
NM_144773.4(PROKR2):c.585G>C (p.Thr195=) rs3746682 0.73326
NM_018117.12(WDR11):c.2958G>A (p.Leu986=) rs1652727 0.71676
NM_018117.12(WDR11):c.3291+39C>T rs1866516 0.65208
NM_017563.5(IL17RD):c.764C>T (p.Thr255Met) rs6780995 0.63417
NM_000216.4(ANOS1):c.1600G>A (p.Val534Ile) rs808119 0.56041
NM_000216.4(ANOS1):c.1833C>T (p.Ile611=) rs809446 0.55191
NM_001946.4(DUSP6):c.340G>T (p.Val114Leu) rs2279574 0.48185
NM_144773.4(PROKR2):c.465C>T (p.Leu155=) rs3746684 0.40371
NM_018117.12(WDR11):c.1899A>T (p.Ala633=) rs7899928 0.37378
NM_018117.12(WDR11):c.2121+31A>G rs7079830 0.37378
NM_198391.3(FLRT3):c.1257C>T (p.Thr419=) rs6042672 0.31273
NM_018117.12(WDR11):c.995-43C>T rs2289335 0.29983
NM_018117.12(WDR11):c.834G>A (p.Thr278=) rs10886789 0.29841
NM_018117.12(WDR11):c.2304A>G (p.Ala768=) rs2289337 0.22603
NM_018117.12(WDR11):c.199-7G>C rs2241846 0.20862
NM_032551.5(KISS1R):c.24A>G (p.Gly8=) rs10407968 0.17826
NM_018117.12(WDR11):c.3363C>G (p.Val1121=) rs3740307 0.10458
NM_004807.3(HS6ST1):c.745C>A (p.Arg249Ser) rs3958533

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