ClinVar Miner

List of variants reported as pathogenic for bone remodeling disease by Women's and Children's Health, University of Otago

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NC_000023.11:g.(64175170_64275169)del
NC_000023.11:g.63635938_64279758del
NC_000023.11:g.64203965_64205889del
NC_000023.11:g.64205190_64206761del
NM_152424.4(AMER1):c.1057C>T (p.Arg353Ter) rs137852216
NM_152424.4(AMER1):c.555_556del (p.Gly186_Ala187insTer) rs1930280217

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