ClinVar Miner

List of variants reported as benign for connective tissue neoplasm by Mendelics

Included ClinVar conditions (133):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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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_015922.3(NSDHL):c.*129C>T rs145978994 0.00030
NM_058172.6(ANTXR2):c.1069G>C (p.Ala357Pro) rs12647691

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