ClinVar Miner

List of variants studied for SHOX-related short stature by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000451.4(SHOX):c.63C>T (p.Gly21=) rs142306835 0.00472
NM_000451.4(SHOX):c.634-14G>T rs759067813 0.00070
NM_000451.4(SHOX):c.374C>G (p.Thr125Arg)

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