ClinVar Miner

List of variants in gene RUNX2 reported as likely pathogenic for bone disorder

Included ClinVar conditions (1346):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001024630.4(RUNX2):c.1088G>T (p.Gly363Val) rs1802414251
NM_001024630.4(RUNX2):c.1127del (p.Phe376fs)
NM_001024630.4(RUNX2):c.423+2del rs1798262516
NM_001024630.4(RUNX2):c.505C>T (p.Arg169Trp) rs1203066173
NM_001024630.4(RUNX2):c.524T>G (p.Met175Arg) rs104893989
NM_001024630.4(RUNX2):c.569G>A (p.Arg190Gln) rs1057521068
NM_001024630.4(RUNX2):c.571A>G (p.Ser191Gly)
NM_001024630.4(RUNX2):c.90del (p.Ser31fs) rs397515538

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