ClinVar Miner

List of variants reported as benign for connective tissue neoplasm by Genome-Nilou Lab

Included ClinVar conditions (133):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000388.4(CASR):c.2244G>C (p.Pro748=) rs2036400 0.97432
NM_000388.4(CASR):c.3031G>C (p.Glu1011Gln) rs1801726 0.91749
NM_000388.4(CASR):c.492+19G>A rs9869985 0.91296
NM_015922.3(NSDHL):c.132T>G (p.Gly44=) rs5969919 0.83345
NM_022124.6(CDH23):c.4206+131T>C rs1227061 0.77987
NM_022124.6(CDH23):c.146-125T>C rs2297953 0.74120
NM_022124.6(CDH23):c.1134+164C>G rs7903772 0.61986
NM_058172.6(ANTXR2):c.378+8A>C rs4594664 0.61456
NM_058172.6(ANTXR2):c.636+54T>A rs10745242 0.61408
NM_000388.4(CASR):c.1609-89C>T rs4678174 0.55250
NM_022124.6(CDH23):c.1135-128A>G rs10823810 0.51167
NM_022124.6(CDH23):c.832+101G>A rs6480531 0.42446
NM_022124.6(CDH23):c.5187+99T>C rs10762481 0.39527
NM_000127.3(EXT1):c.1761G>A (p.Glu587=) rs7837891 0.36094
NM_022124.6(CDH23):c.624+64C>T rs7087735 0.34986
NM_207122.2(EXT2):c.1080-18T>A rs11037882 0.26140
NM_000127.3(EXT1):c.1065C>T (p.Cys355=) rs11546829 0.23625
NM_000388.4(CASR):c.*60A>T rs4677948
NM_003025.4(SH3GL1):c.771C>G (p.Pro257=) rs243261
NM_058172.6(ANTXR2):c.1042-114G>A rs4444771
NM_058172.6(ANTXR2):c.1069G>C (p.Ala357Pro) rs12647691

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