ClinVar Miner

List of variants studied for bone development disease by Department of Genetics, Beijing BioBiggen Technology Co., Ltd.

Included ClinVar conditions (588):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000088.4(COL1A1):c.4332del (p.Leu1445fs) rs1114167405
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg) rs28931614

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