List of variants in gene CDH23, PSAP studied for Gaucher disease due to saposin C deficiency

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: 6

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HGVS	dbSNP	gnomAD frequency
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.1350+5G>A	rs11000016	0.16762
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

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