ClinVar Miner

List of variants reported as pathogenic for congenital hypogonadotropic hypogonadism by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

Included ClinVar conditions (69):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_003401.5(XRCC4):c.127T>C (p.Trp43Arg) rs587779351 0.00002
NM_025000.4(DCAF17):c.387G>A (p.Trp129Ter) rs1559264135 0.00001
NM_000059.4(BRCA2):c.9152del (p.Pro3051fs) rs587779349
NM_000475.5(NR0B1):c.919G>T (p.Glu307Ter) rs1324519932
NM_014171.6(CRIPT):c.133_134insGG (p.Ala45fs) rs587779356
NM_014171.6(CRIPT):c.141del (p.Phe47fs) rs587779348
NM_017780.4(CHD7):c.6148C>T (p.Arg2050Ter) rs886040996
NM_017780.4(CHD7):c.6955C>T (p.Arg2319Cys) rs121434341
NM_019066.5(MAGEL2):c.1912C>T (p.Gln638Ter) rs797044883
NM_025000.4(DCAF17):c.436del (p.Ala147fs) rs797045038

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