ClinVar Miner

List of variants in gene HESX1 reported as benign for combined pituitary hormone deficiencies, genetic form

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_003865.3(HESX1):c.374A>G (p.Asn125Ser) rs9878928 0.07568
NM_003865.3(HESX1):c.90C>T (p.Asp30=) rs115448575 0.00117
NM_003865.3(HESX1):c.183T>C (p.His61=) rs374187836 0.00001
NM_003865.3(HESX1):c.358-6del
NM_003865.3(HESX1):c.358-6dup

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