ClinVar Miner

List of variants studied for bone neoplasm by Mendelics

Included ClinVar conditions (110):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_002451.4(MTAP):c.166G>A (p.Val56Ile) rs7023954 0.42302
NM_000127.3(EXT1):c.1065C>T (p.Cys355=) rs11546829 0.23625
NM_207122.2(EXT2):c.710C>T (p.Ser237Leu) rs139525250 0.00236
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_207122.2(EXT2):c.260T>G (p.Met87Arg) rs140075817 0.00031
NM_015922.3(NSDHL):c.*129C>T rs145978994 0.00030
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_000127.3(EXT1):c.962+3_962+6del rs1586279285
NM_002609.4(PDGFRB):c.1997A>G (p.Asn666Ser) rs2113894766
NM_005188.4(CBL):c.1439G>A (p.Arg480Gln) rs1949969239
NM_005373.3(MPL):c.1653+1del rs755257605
NM_022552.5(DNMT3A):c.1676G>A (p.Cys559Tyr) rs1313738991
NM_022552.5(DNMT3A):c.2644C>T (p.Arg882Cys) rs377577594
NM_054021.2(GPR101):c.924G>C (p.Glu308Asp) rs73637412
NM_058172.6(ANTXR2):c.1069G>C (p.Ala357Pro) rs12647691

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