ClinVar Miner

List of variants in gene CDH23, PSAP studied for Metachromatic leukodystrophy

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Total variants: 34
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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_022124.5(CDH23):c.9510+16_9510+22delTCAGGCA rs149704197
NM_022124.6(CDH23):c.*104G>C rs377312107
NM_022124.6(CDH23):c.*141G>A rs535544696
NM_022124.6(CDH23):c.*204A>G rs2290022
NM_022124.6(CDH23):c.*349A>G rs1867978
NM_022124.6(CDH23):c.*361C>A rs115033851
NM_022124.6(CDH23):c.*430A>T rs562268606
NM_022124.6(CDH23):c.*434G>A rs529522213
NM_022124.6(CDH23):c.*439C>T rs140312023
NM_022124.6(CDH23):c.*478G>C rs564392413
NM_022124.6(CDH23):c.*510G>A rs1054635
NM_022124.6(CDH23):c.*515C>A rs16929375
NM_022124.6(CDH23):c.*588del rs148667421
NM_022124.6(CDH23):c.*68G>C rs527311705
NM_022124.6(CDH23):c.*80G>A rs75715348
NM_022124.6(CDH23):c.10026C>T (p.Asp3342=) rs377118941
NM_022124.6(CDH23):c.9291G>T (p.Lys3097Asn) rs368441850
NM_022124.6(CDH23):c.9319+11G>A rs11000013
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu) rs45583140
NM_022124.6(CDH23):c.9501G>A (p.Thr3167=) rs144906721
NM_022124.6(CDH23):c.9510+13C>T rs183692794
NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr) rs144688588
NM_022124.6(CDH23):c.9739-12G>A rs200638595
NM_022124.6(CDH23):c.9758A>C (p.Asp3253Ala) rs140463385
NM_022124.6(CDH23):c.9799C>T (p.Arg3267Cys) rs201727938
NM_022124.6(CDH23):c.9860G>A (p.Gly3287Asp) rs562590210
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=) rs2290021
NM_022124.6(CDH23):c.9903C>T (p.Pro3301=) rs55717455
NM_022124.6(CDH23):c.9942G>A (p.Thr3314=) rs376804660
NM_022124.6(CDH23):c.9978C>T (p.Asn3326=) rs73277900
NM_022124.6(CDH23):c.9983G>A (p.Arg3328His) rs148475933

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