ClinVar Miner

List of variants reported as benign for Metachromatic leukodystrophy

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Total variants: 43
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HGVS dbSNP
NM_000487.6(ARSA):c.*1076A>T rs114833506
NM_000487.6(ARSA):c.*1351C>G rs131717
NM_000487.6(ARSA):c.*1369C>T rs76841085
NM_000487.6(ARSA):c.*1522C>A rs6009939
NM_000487.6(ARSA):c.*1570C>T rs79823940
NM_000487.6(ARSA):c.*1746G>A rs73172277
NM_000487.6(ARSA):c.*1769A>G rs56788262
NM_000487.6(ARSA):c.*340T>A rs5741862
NM_000487.6(ARSA):c.*635G>A rs5770953
NM_000487.6(ARSA):c.*682G>C rs7288338
NM_000487.6(ARSA):c.*741C>T rs8142033
NM_000487.6(ARSA):c.*777C>G rs115593886
NM_000487.6(ARSA):c.*855G>A rs7288050
NM_000487.6(ARSA):c.*919A>G rs5770805
NM_000487.6(ARSA):c.*96A>G rs6151429
NM_000487.6(ARSA):c.*992G>A
NM_000487.6(ARSA):c.-345G>C rs6151406
NM_000487.6(ARSA):c.1002C>T (p.Ser334=) rs147027229
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421
NM_000487.6(ARSA):c.1149C>T (p.Asp383=) rs6151425
NM_000487.6(ARSA):c.1178C>G (p.Thr393Ser) rs743616
NM_000487.6(ARSA):c.243C>T (p.Gly81=) rs6151410
NM_000487.6(ARSA):c.459C>T (p.His153=) rs6151412
NM_000487.6(ARSA):c.466-7G>C rs6151414
NM_000487.6(ARSA):c.495G>A (p.Pro165=)
NM_000487.6(ARSA):c.558C>T (p.Asn186=) rs574416131
NM_000487.6(ARSA):c.585G>T (p.Trp195Cys) rs6151415
NM_000487.6(ARSA):c.598G>A (p.Glu200Lys) rs776156197
NM_000487.6(ARSA):c.624T>C (p.His208=) rs113990230
NM_000487.6(ARSA):c.636C>T (p.Ala212=) rs200182983
NM_000487.6(ARSA):c.659C>T (p.Pro220Leu) rs201251634
NM_000487.6(ARSA):c.937C>A (p.Arg313=) rs551472773
NM_000487.6(ARSA):c.972C>T (p.Ile324=) rs200567315
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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