ClinVar Miner

List of variants studied for congenital hypogonadotropic hypogonadism by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

Included ClinVar conditions (68):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_033343.4(LHX4):c.250C>T (p.Arg84Cys) rs121912642 0.00001
NM_017780.4(CHD7):c.3422_3423del (p.Val1141fs) rs2150761158
NM_017780.4(CHD7):c.5405-7G>A rs398124321
NM_017780.4(CHD7):c.7879C>T (p.Arg2627Ter) rs1064793346
NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs) rs770374710

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