ClinVar Miner

List of variants studied for isolated congenital growth hormone deficiency by Endocrinology Clinic, Seth G.S. Medical College

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000823.4(GHRHR):c.281G>A (p.Arg94Gln) rs200848306 0.00001
NC_000007.14:g.30959635_30967328delinsAGAGATCCA
NC_000007.14:g.31008681G>T rs1562606449
NC_000007.14:g.62535490A>G rs483352872
NM_000823.4(GHRHR):c.418T>C (p.Ser140Pro) rs606231412
NM_000823.4(GHRHR):c.495C>A (p.His165Gln) rs606231413

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