List of variants in gene combination CDH23, PSAP studied for CDH23-related disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_002778.4(PSAP):c.1351-14A>G	rs4747203	0.34512
NM_022124.6(CDH23):c.9903C>T (p.Pro3301=)	rs55717455	0.00341
NM_022124.6(CDH23):c.9501G>A (p.Thr3167=)	rs144906721	0.00292
NM_022124.6(CDH23):c.10026C>T (p.Asp3342=)	rs377118941	0.00185
NM_022124.6(CDH23):c.*68G>C	rs527311705	0.00182
NM_022124.6(CDH23):c.*430A>T	rs562268606	0.00131
NM_022124.6(CDH23):c.9942G>A (p.Thr3314=)	rs376804660	0.00053
NM_022124.6(CDH23):c.*141G>A	rs535544696	0.00031
NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr)	rs144688588	0.00026
NM_022124.6(CDH23):c.9799C>T (p.Arg3267Cys)	rs201727938	0.00016
NM_022124.6(CDH23):c.9291G>T (p.Lys3097Asn)	rs368441850	0.00006
NM_022124.6(CDH23):c.9860G>A (p.Gly3287Asp)	rs562590210	0.00001
NM_022124.6(CDH23):c.*588del	rs148667421
NM_022124.6(CDH23):c.9739-12G>A	rs200638595

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