ClinVar Miner

List of variants studied for congenital hypogonadotropic hypogonadism by GenomeConnect, ClinGen

Included ClinVar conditions (68):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_033343.4(LHX4):c.1052C>T (p.Thr351Met) rs200119009 0.00019
NM_000306.4(POU1F1):c.40C>G (p.Pro14Ala) rs200873915 0.00010
NM_017780.4(CHD7):c.3655C>T (p.Arg1219Ter) rs372174845
NM_019066.5(MAGEL2):c.1601del (p.Pro534fs) rs1890397401

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