ClinVar Miner

List of variants studied for isolated congenital growth hormone deficiency by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000515.5(GH1):c.116C>T (p.Ala39Val) rs151263636 0.00985
NM_000061.3(BTK):c.615G>T (p.Glu205Asp) rs35877704 0.00114
NM_000061.3(BTK):c.1103-11C>G rs782217532 0.00005
NM_000061.3(BTK):c.1475G>A (p.Arg492His) rs782338603 0.00001
NM_000061.3(BTK):c.1559G>A (p.Arg520Gln) rs128621202
NM_000515.5(GH1):c.291+1G>A rs71640277
NM_000515.5(GH1):c.456+19G>T rs61735351

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