ClinVar Miner

List of variants reported as benign for Metachromatic leukodystrophy

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Total variants: 25
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HGVS dbSNP
NM_000487.5(ARSA):c.*1351C>G rs131717
NM_000487.5(ARSA):c.*1522C>A rs6009939
NM_000487.5(ARSA):c.*635G>A rs5770953
NM_000487.5(ARSA):c.*682G>C rs7288338
NM_000487.5(ARSA):c.*855G>A rs7288050
NM_000487.5(ARSA):c.*919A>G rs5770805
NM_000487.5(ARSA):c.1055A>G (p.Asn352Ser) rs2071421
NM_000487.5(ARSA):c.1149C>T (p.Asp383=) rs6151425
NM_000487.5(ARSA):c.1178C>G (p.Thr393Ser) rs743616
NM_000487.5(ARSA):c.243C>T (p.Gly81=) rs6151410
NM_000487.5(ARSA):c.459C>T (p.His153=) rs6151412
NM_000487.5(ARSA):c.585G>T (p.Trp195Cys) rs6151415
NM_000487.5(ARSA):c.598G>A (p.Glu200Lys) rs776156197
NM_002778.3(PSAP):c.*891G>A rs7869
NM_002778.3(PSAP):c.-4C>T rs2070188
NM_002778.3(PSAP):c.1350+5G>A rs11000016
NM_002778.3(PSAP):c.1351-14A>G rs4747203
NM_022124.5(CDH23):c.*204A>G rs2290022
NM_022124.5(CDH23):c.*349A>G rs1867978
NM_022124.5(CDH23):c.*510G>A rs1054635
NM_022124.5(CDH23):c.9319+11G>A rs11000013
NM_022124.5(CDH23):c.9373T>C (p.Phe3125Leu) rs45583140
NM_022124.5(CDH23):c.9510+16_9510+22delTCAGGCA rs149704197
NM_022124.5(CDH23):c.9873G>A (p.Thr3291=) rs2290021
NM_022124.5(CDH23):c.9978C>T (p.Asn3326=) rs73277900

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