List of variants reported as benign for Combined PSAP deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 25

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_022124.6(CDH23):c.*349A>G	rs1867978	0.77194
NM_002778.4(PSAP):c.1432-22C>T	rs885828	0.34727
NM_002778.4(PSAP):c.1351-14A>G	rs4747203	0.34512
NM_002778.4(PSAP):c.*891G>A	rs7869	0.34207
NM_002778.4(PSAP):c.1431+116C>T	rs749823	0.20609
NM_002778.4(PSAP):c.1350+5G>A	rs11000016	0.16762
NM_022124.6(CDH23):c.*204A>G	rs2290022	0.13799
NM_002778.4(PSAP):c.1540-34C>T	rs4747202	0.13788
NM_002778.4(PSAP):c.1005+18C>T	rs55829339	0.13764
NM_002778.4(PSAP):c.-4C>T	rs2070188	0.12811
NM_022124.6(CDH23):c.9319+11G>A	rs11000013	0.10868
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=)	rs2290021	0.08719
NM_022124.6(CDH23):c.*510G>A	rs1054635	0.07812
NM_002778.4(PSAP):c.909+32G>T	rs41307569	0.06451
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu)	rs45583140	0.04021
NM_022124.6(CDH23):c.9978C>T (p.Asn3326=)	rs73277900	0.02056
NM_002778.4(PSAP):c.*775G>A	rs79662404	0.01440
NM_002778.4(PSAP):c.-10A>G	rs76455588	0.01197
NM_002778.4(PSAP):c.78C>T (p.Thr26=)	rs74145688	0.00850
NM_002778.4(PSAP):c.1452G>A (p.Ser484=)	rs114389264	0.00778
NM_002778.4(PSAP):c.1380C>T (p.Pro460=)	rs1049882	0.00284
NM_002778.4(PSAP):c.336C>T (p.Ser112=)	rs370977178	0.00003
NM_002778.4(PSAP):c.1193-26G>A	rs3747860
NM_002778.4(PSAP):c.570G>T (p.Gln190His)	rs142272618
NM_022124.6(CDH23):c.9510+19_9510+25del	rs149704197

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.