ClinVar Miner

List of variants reported as benign for Metachromatic leukodystrophy by Illumina Laboratory Services, Illumina

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_000487.6(ARSA):c.*919A>G rs5770805 0.78412
NM_022124.6(CDH23):c.*349A>G rs1867978 0.77194
NM_000487.6(ARSA):c.1178C>G (p.Thr393Ser) rs743616 0.48362
NM_000487.6(ARSA):c.*682G>C rs7288338 0.41670
NM_000487.6(ARSA):c.*855G>A rs7288050 0.41126
NM_002778.4(PSAP):c.1351-14A>G rs4747203 0.34512
NM_000487.6(ARSA):c.*635G>A rs5770953 0.29302
NM_000487.6(ARSA):c.*1522C>A rs6009939 0.26325
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421 0.19530
NM_002778.4(PSAP):c.1350+5G>A rs11000016 0.16762
NM_022124.6(CDH23):c.*204A>G rs2290022 0.13799
NM_000487.6(ARSA):c.*741C>T rs8142033 0.13503
NM_000487.6(ARSA):c.*340T>A rs5741862 0.11788
NM_022124.6(CDH23):c.9319+11G>A rs11000013 0.10868
NM_000487.6(ARSA):c.-345G>C rs6151406 0.09453
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=) rs2290021 0.08719
NM_022124.6(CDH23):c.*510G>A rs1054635 0.07812
NM_000487.6(ARSA):c.*1570C>T rs79823940 0.07507
NM_000487.6(ARSA):c.*1369C>T rs76841085 0.07487
NM_000487.6(ARSA):c.459C>T (p.His153=) rs6151412 0.05937
NM_000487.6(ARSA):c.585G>T (p.Trp195Cys) rs6151415 0.05295
NM_000487.6(ARSA):c.*96A>G rs6151429 0.05120
NM_000487.6(ARSA):c.*1746G>A rs73172277 0.04494
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu) rs45583140 0.04021
NM_000487.6(ARSA):c.1149C>T (p.Asp383=) rs6151425 0.04013
NM_000487.6(ARSA):c.*1076A>T rs114833506 0.02807
NM_000487.6(ARSA):c.*1769A>G rs56788262 0.02807
NM_000487.6(ARSA):c.243C>T (p.Gly81=) rs6151410 0.02425
NM_022124.6(CDH23):c.9978C>T (p.Asn3326=) rs73277900 0.02056
NM_000487.6(ARSA):c.*992G>A rs376910590 0.00717
NM_000487.6(ARSA):c.*1351C>G rs131717
NM_000487.6(ARSA):c.*777C>G rs115593886
NM_000487.6(ARSA):c.495G>A (p.Pro165=) rs145299072
NM_022124.6(CDH23):c.9510+19_9510+25del rs149704197

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