ClinVar Miner

List of variants in gene SHOX reported as uncertain significance for bone development disease

Included ClinVar conditions (614):
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_000451.4(SHOX):c.38A>G (p.Asp13Gly) rs1334507288
NM_000451.4(SHOX):c.547G>C (p.Val183Leu)
NM_000451.4(SHOX):c.66AGGCGG[3] (p.Gly27_Gly28dup) rs747349135
NM_000451.4(SHOX):c.673CACCCGCACCTG[3] (p.225HPHL[3]) rs752208304
NM_000451.4(SHOX):c.877T>C (p.Ter293Arg) rs137852559

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