List of variants in gene RUNX2 reported as pathogenic by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001024630.3:c.(58+1_59-269)_(859+1_860-1)dup
NM_001024630.4(RUNX2):c.*3160G>T	rs1200428
NM_001024630.4(RUNX2):c.1205dup (p.Pro403fs)	rs730880314
NM_001024630.4(RUNX2):c.1228dup (p.Leu410fs)	rs730880315
NM_001024630.4(RUNX2):c.1379dup (p.Asp463fs)	rs1582232661
NM_001024630.4(RUNX2):c.1565G>C (p.Ter522Ser)	rs104893994
NM_001024630.4(RUNX2):c.506G>C (p.Arg169Pro)	rs104893995
NM_001024630.4(RUNX2):c.524T>G (p.Met175Arg)	rs104893989
NM_001024630.4(RUNX2):c.572G>A (p.Ser191Asn)	rs104893990
NM_001024630.4(RUNX2):c.598A>G (p.Thr200Ala)	rs104893993
NM_001024630.4(RUNX2):c.673C>T (p.Arg225Trp)	rs104893992
NM_001024630.4(RUNX2):c.674G>A (p.Arg225Gln)	rs104893991
NM_001024630.4(RUNX2):c.891G>A (p.Trp297Ter)	rs104893988

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