ClinVar Miner

List of variants reported as likely pathogenic for congenital hypogonadotropic hypogonadism by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

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_000439.5(PCSK1):c.1346T>C (p.Leu449Pro) rs1580746829
NM_000439.5(PCSK1):c.1688C>G (p.Pro563Arg) rs1580744791
NM_017780.4(CHD7):c.5381T>C (p.Leu1794Pro) rs1064795943
NM_017780.4(CHD7):c.7285G>T (p.Glu2429Ter) rs773047607
NM_017780.4(CHD7):c.7800_7801dup (p.Tyr2601fs)

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