ClinVar Miner

List of variants studied for bone neoplasm by Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine

Included ClinVar conditions (110):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_002168.4(IDH2):c.1304C>T (p.Thr435Met) rs118053940 0.00372
NM_000551.4(VHL):c.74C>T (p.Pro25Leu) rs35460768 0.00261
NM_001530.4(HIF1A):c.1264G>T (p.Asp422Tyr) rs149348765 0.00218
NM_005896.4(IDH1):c.565A>G (p.Ile189Val) rs62193615 0.00054
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) rs104893829 0.00039
NM_002168.4(IDH2):c.673G>A (p.Asp225Asn) rs142816010 0.00035
NM_000077.5(CDKN2A):c.318G>A (p.Val106=) rs199888003 0.00026
NM_001982.4(ERBB3):c.4009G>A (p.Ala1337Thr) rs755855285 0.00014
NM_000551.4(VHL):c.628C>T (p.Arg210Trp) rs774380450 0.00003
NM_002070.4(GNAI2):c.879G>A (p.Gly293=) rs143863348 0.00003
NM_000551.4(VHL):c.538A>G (p.Ile180Val) rs377715747 0.00001
NM_005896.4(IDH1):c.395G>A (p.Arg132His) rs121913500 0.00001
NM_000077.5(CDKN2A):c.50C>G (p.Ala17Gly)
NM_000551.4(VHL):c.154G>A (p.Glu52Lys) rs373068386
NM_001146696.2(KDM4C):c.11A>G (p.Tyr4Cys)
NM_001530.4(HIF1A):c.1369G>A (p.Glu457Lys)
NM_001530.4(HIF1A):c.148G>C (p.Val50Leu)
NM_001530.4(HIF1A):c.1892G>A (p.Arg631His)
NM_001530.4(HIF1A):c.1961C>T (p.Ala654Val)
NM_001530.4(HIF1A):c.2075C>G (p.Ser692Cys)
NM_001530.4(HIF1A):c.644C>T (p.Pro215Leu)
NM_015061.6(KDM4C):c.1112G>A (p.Arg371Gln)
NM_015061.6(KDM4C):c.2320G>A (p.Ala774Thr)
NM_016222.3:c.[711G>T;712C>A]
NM_207122.2(EXT2):c.314del (p.Lys105fs) rs1954084273

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