ClinVar Miner

List of variants in gene LOC109611589, RUNX2 studied for bone disorder

Included ClinVar conditions (1350):
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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001024630.4(RUNX2):c.240G>A (p.Ala80=) rs6921145 0.07604
NM_001024630.4(RUNX2):c.176A>G (p.Gln59Arg) rs779943223 0.00005
NM_001024630.4(RUNX2):c.159ACAGCAGCAGCAGCA[3] (p.Gln67_Gln71dup) rs781355841
NM_001024630.4(RUNX2):c.173_227del (p.Gln58fs)
NM_001024630.4(RUNX2):c.189_203delinsACAGCAGCAGCAGCAGCAGCAACAGCAGCCG (p.Glu72fs) rs730880313
NM_001024630.4(RUNX2):c.203delinsCG (p.Gln68fs) rs1798243790
NM_001024630.4(RUNX2):c.211C>T (p.Gln71Ter) rs774631263
NM_001024630.4(RUNX2):c.217del (p.Ala73fs) rs1554384228
NM_001024630.4(RUNX2):c.225GGCGGCTGCGGCGGCGGC[1] (p.Ala84_Ala89del) rs11498192
NM_001024630.4(RUNX2):c.233_234insAGGA (p.Ala79fs) rs1338909353
NM_001024630.4(RUNX2):c.234G>A (p.Ala78=) rs886061493

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