ClinVar Miner

List of variants studied for congenital hypogonadotropic hypogonadism by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

Included ClinVar conditions (68):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_005149.3(TBX19):c.377C>T (p.Pro126Leu) rs753455443 0.00001
NM_005149.3(TBX19):c.608C>T (p.Thr203Met) rs748717639 0.00001
NM_017780.4(CHD7):c.6734del (p.Leu2245fs) rs1563661595
NM_017780.4(CHD7):c.8743G>A (p.Gly2915Arg) rs1586468892
NM_019066.5(MAGEL2):c.1621C>T (p.Gln541Ter) rs1555374290
NM_025000.4(DCAF17):c.436del (p.Ala147fs) rs797045038
NM_178138.6(LHX3):c.112A>G (p.Ile38Val) rs1341469393
NM_207111.4(RNF216):c.2663T>A (p.Val888Glu) rs1449103875

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