ClinVar Miner

List of variants in gene RUNX2, SUPT3H studied for bone development disease

Included ClinVar conditions (618):
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_003599.4(SUPT3H):c.101+36483_101+36485del rs139788537 0.00393
NM_003599.4(SUPT3H):c.101+36538A>G rs750277342 0.00002
NM_003599.4(SUPT3H):c.101+36514G>A rs886061492 0.00001
NM_001024630.4(RUNX2):c.29dup (p.Thr11fs) rs1786864520
NM_001024630.4(RUNX2):c.54T>C (p.Phe18=) rs1786871639

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