ClinVar Miner

List of variants reported as likely pathogenic for Metachromatic leukodystrophy by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_002778.4(PSAP):c.679_681del (p.Lys227del) rs1431844269 0.00003
NM_000487.6(ARSA):c.370G>A (p.Gly124Ser) rs74315461 0.00001
NM_000046.5(ARSB):c.219_230delinsG (p.Asp73fs) rs1561197425
NM_000487.6(ARSA):c.1108-1G>C rs2146718041
NM_000487.6(ARSA):c.1210+1G>T rs80338820
NM_000487.6(ARSA):c.1227_1228del (p.Thr410fs) rs2082647866
NM_000487.6(ARSA):c.1492dup (p.Arg498fs) rs774153480
NM_000487.6(ARSA):c.200del (p.Pro67fs) rs2082697802
NM_000487.6(ARSA):c.211_212del (p.Cys71fs) rs1057516288
NM_000487.6(ARSA):c.244del (p.Arg82fs) rs1569081823
NM_000487.6(ARSA):c.418C>G (p.His140Asp) rs199476358
NM_000487.6(ARSA):c.925G>T (p.Glu309Ter) rs199476360
NM_000487.6(ARSA):c.942G>T (p.Glu314Asp) rs199476390
NM_000487.6(ARSA):c.979_979+3del rs1057516887
NM_000487.6(ARSA):c.991G>T (p.Glu331Ter) rs398123419
NM_002778.4(PSAP):c.1046T>C (p.Leu349Pro) rs121918110

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