ClinVar Miner

List of variants in gene CDH23 reported as benign for connective tissue neoplasm

Included ClinVar conditions (133):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.146-125T>C rs2297953 0.74120
NM_022124.6(CDH23):c.1134+164C>G rs7903772 0.61986
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_022124.6(CDH23):c.624+64C>T rs7087735 0.34986
NM_022124.6(CDH23):c.7055-16A>G rs4747193 0.34615
NM_022124.6(CDH23):c.1469G>C (p.Gly490Ala) rs1227049 0.20047
NM_022124.6(CDH23):c.1449+130T>C rs2305209 0.14152
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met) rs41281330 0.01037
NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu) rs74145660

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