ClinVar Miner

List of variants studied for bone benign neoplasm by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_016169.4(SUFU):c.839G>A (p.Arg280Gln) rs145704867 0.00014
NM_000368.5(TSC1):c.1231C>A (p.Leu411Ile) rs397514840 0.00003
NM_000264.5(PTCH1):c.203G>A (p.Gly68Glu) rs757430199 0.00001
NM_000368.5(TSC1):c.1355G>C (p.Gly452Ala) rs371093730 0.00001
NM_001042492.3(NF1):c.4836G>A (p.Arg1612=) rs1555533268 0.00001
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer) rs587779352
NM_000264.5(PTCH1):c.113G>A (p.Gly38Glu) rs143494325
NM_000400.4(ERCC2):c.1361TCA[2] (p.Ile456del) rs750123656

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