List of variants in gene combination CDH23, PSAP reported as uncertain significance for Sphingolipid activator protein 1 deficiency

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

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_022124.6(CDH23):c.*434G>A	rs529522213	0.00133
NM_022124.6(CDH23):c.*430A>T	rs562268606	0.00131
NM_002778.4(PSAP):c.*238G>C	rs1174797357	0.00001
NC_000010.10:g.(?_73569557)_(73594282_?)dup

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