ClinVar Miner

List of variants studied for Hypogonadism with anosmia

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_017780.3(CHD7):c.*2104T>A rs16926520 0.11399
NM_023110.3(FGFR1):c.*2104del rs201364530 0.00099
NM_017780.4(CHD7):c.3222C>T (p.Ser1074=) rs199675568 0.00023
NM_017780.4(CHD7):c.*1644A>G rs886063053 0.00004
NM_001035235.4(SRA1):c.341G>A (p.Arg114His) rs1306465994 0.00001
NM_017780.4(CHD7):c.4811G>C (p.Ser1604Thr) rs367722051 0.00001
NM_017780.4(CHD7):c.6321C>T (p.His2107=) rs778800676 0.00001
NC_000008.11:g.38463238_38470748del
NM_001166114.2(PNPLA6):c.3885dup (p.Ser1296fs) rs2146123001
NM_006941.4(SOX10):c.89C>A (p.Ser30Ter) rs1932477493
NM_017780.4(CHD7):c.*127del rs11322994
NM_017780.4(CHD7):c.*1663AG[1] rs761460675
NM_017780.4(CHD7):c.*338del rs886063045
NM_017780.4(CHD7):c.-465GCG[8] rs71245513
NM_017780.4(CHD7):c.-466_-461del rs886063025
NM_017780.4(CHD7):c.-466delinsGGCGGCAGCG rs886063026
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCG rs886063026
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCAGCG rs886063026
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCG rs886063026
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCGGCGGCG rs886063026
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCGGCGGCGGCG rs886063026
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCGGCGGCGGCGGCG rs886063026
NM_017780.4(CHD7):c.-467_-466insGGCAGC rs1554568913
NM_017780.4(CHD7):c.-490GGC[10] rs886063023
NM_017780.4(CHD7):c.-490GGC[9] rs886063023
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup) rs377139749
NM_017780.4(CHD7):c.892A>G (p.Thr298Ala) rs886063033
NM_017780.4(CHD7):c.8960_8962del (p.Gly2987del) rs771806027
NM_144773.4(PROKR2):c.254G>A (p.Arg85His) rs74315418
NM_207037.2(TCF12):c.20dup (p.Met8fs)

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