List of variants in gene CDH23, PSAP studied for metachromatic leukodystrophy due to saposin B deficiency

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 7

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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
NC_000010.10:g.(?_73569557)_(73594282_?)dup

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