ClinVar Miner

List of variants reported as uncertain significance for bone neoplasm by Mendelics

Included ClinVar conditions (110):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190 0.00115
NM_207122.2(EXT2):c.1760C>T (p.Thr587Met) rs138495222 0.00063
NM_003977.4(AIP):c.145G>A (p.Val49Met) rs1063385 0.00006
NM_000127.3(EXT1):c.2072G>A (p.Arg691His) rs746678682 0.00002
NM_000127.3(EXT1):c.2143A>G (p.Met715Val) rs1225915837
NM_054021.2(GPR101):c.924G>C (p.Glu308Asp) rs73637412

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