ClinVar Miner

List of variants studied for hypogonadotropic hypogonadism by SIB Swiss Institute of Bioinformatics

Included ClinVar conditions (102):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_023110.3(FGFR1):c.2314C>T (p.Pro772Ser) rs56234888 0.01307
NM_017780.4(CHD7):c.6478G>A (p.Ala2160Thr) rs61753399 0.00482
NM_017780.4(CHD7):c.2230G>A (p.Gly744Ser) rs141947938 0.00470
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu) rs192129249 0.00267

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