ClinVar Miner

List of variants in gene combination CDH23, PSAP reported as benign for Metachromatic leukodystrophy

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Total variants: 11
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HGVS dbSNP
NM_002778.4(PSAP):c.*891G>A rs7869
NM_002778.4(PSAP):c.1350+5G>A rs11000016
NM_002778.4(PSAP):c.1351-14A>G rs4747203
NM_022124.6(CDH23):c.*204A>G rs2290022
NM_022124.6(CDH23):c.*349A>G rs1867978
NM_022124.6(CDH23):c.*510G>A rs1054635
NM_022124.6(CDH23):c.9319+11G>A rs11000013
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu) rs45583140
NM_022124.6(CDH23):c.9510+19_9510+25del rs149704197
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=) rs2290021
NM_022124.6(CDH23):c.9978C>T (p.Asn3326=) rs73277900

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