ClinVar Miner

List of variants studied for bone development disease by Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia, Universidade Católica de Brasília

Included ClinVar conditions (588):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) rs28933068
NM_001024630.4(RUNX2):c.476G>A (p.Gly159Asp) rs864621970
NM_001174147.2(LMX1B):c.306C>G (p.Tyr102Ter) rs864621969
NM_001457.4(FLNB):c.1945C>T (p.Arg649Ter) rs80356517
NM_001844.5(COL2A1):c.3301G>A (p.Gly1101Arg) rs864621973
NM_003722.5(TP63):c.740A>G (p.His247Arg) rs864621968
NM_004836.7(EIF2AK3):c.1192C>T (p.Gln398Ter) rs864621972

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