ClinVar Miner

List of variants reported as pathogenic for congenital hypogonadotropic hypogonadism by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (68):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000406.3(GNRHR):c.785G>A (p.Arg262Gln) rs104893837 0.00132
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu) rs138249161 0.00031
NM_000406.3(GNRHR):c.416G>A (p.Arg139His) rs104893842 0.00021
NM_006261.5(PROP1):c.349T>A (p.Phe117Ile) rs121917840 0.00010
NM_006261.5(PROP1):c.358C>T (p.Arg120Cys) rs121917839 0.00005
NM_006261.5(PROP1):c.217C>T (p.Arg73Cys) rs121917843 0.00003
NM_000406.3(GNRHR):c.401T>G (p.Val134Gly) rs188272653 0.00001
NM_006261.5(PROP1):c.334C>T (p.Arg112Ter) rs766673446 0.00001
NM_000061.3(BTK):c.1559G>A (p.Arg520Gln) rs128621202
NM_000475.5(NR0B1):c.708G>A (p.Trp236Ter) rs1131691564
NM_000515.5(GH1):c.291+1G>A rs71640277
NM_001166114.2(PNPLA6):c.3058_3061dup (p.Arg1021fs) rs606231167
NM_006261.5(PROP1):c.301_302del (p.Leu102fs) rs193922688
NM_017780.4(CHD7):c.2839C>T (p.Arg947Ter) rs200220845
NM_017780.4(CHD7):c.3082A>G (p.Ile1028Val) rs121434338
NM_017780.4(CHD7):c.3205C>T (p.Arg1069Ter) rs886040985
NM_017780.4(CHD7):c.6157C>T (p.Arg2053Ter) rs587783450
NM_019066.5(MAGEL2):c.1912C>T (p.Gln638Ter) rs797044883

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