ClinVar Miner

List of variants in gene combination CDH23, PSAP reported as benign for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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NM_022124.6(CDH23):c.*204A>G rs2290022
NM_022124.6(CDH23):c.*349A>G rs1867978
NM_022124.6(CDH23):c.*510G>A rs1054635
NM_022124.6(CDH23):c.9319+11G>A rs11000013
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu) rs45583140
NM_022124.6(CDH23):c.9501G>A (p.Thr3167=) rs144906721
NM_022124.6(CDH23):c.9510+13C>T rs183692794
NM_022124.6(CDH23):c.9510+19_9510+25del rs149704197
NM_022124.6(CDH23):c.9758A>C (p.Asp3253Ala) rs140463385
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=) rs2290021
NM_022124.6(CDH23):c.9903C>T (p.Pro3301=) rs55717455
NM_022124.6(CDH23):c.9978C>T (p.Asn3326=) rs73277900

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