ClinVar Miner

List of variants studied for connective tissue neoplasm by Mendelics

Included ClinVar conditions (122):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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NM_000127.2(EXT1):c.1065C>T (p.Cys355=) rs11546829
NM_000127.3(EXT1):c.2072G>A (p.Arg691His) rs746678682
NM_000127.3(EXT1):c.2143A>G (p.Met715Val) rs1225915837
NM_000401.3(EXT2):c.1859C>T (p.Thr620Met) rs138495222
NM_000401.3(EXT2):c.359T>G (p.Met120Arg) rs140075817
NM_000401.3(EXT2):c.809C>T (p.Ser270Leu) rs139525250
NM_002451.4(MTAP):c.166G>A (p.Val56Ile) rs7023954
NM_002609.4(PDGFRB):c.3287C>T (p.Ala1096Val) rs114435947
NM_003977.4(AIP):c.145G>A (p.Val49Met) rs1063385
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190
NM_015922.3(NSDHL):c.*129C>T rs145978994
NM_054021.1(GPR101):c.924G>C (p.Glu308Asp) rs73637412
NM_058172.6(ANTXR2):c.1069G>C (p.Ala357Pro) rs12647691

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