ClinVar Miner

List of variants in gene CDH23, PSAP studied for Sphingolipid activator protein 1 deficiency

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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

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