ClinVar Miner

List of variants reported as benign for Metachromatic leukodystrophy by Invitae

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000487.6(ARSA):c.1210+20C>G rs762674 0.76867
NM_000487.6(ARSA):c.1178C>G (p.Thr393Ser) rs743616 0.48362
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421 0.19530
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.1493G>A (p.Arg498His) rs6151428 0.04709
NM_000487.6(ARSA):c.1149C>T (p.Asp383=) rs6151425 0.04013
NM_000487.6(ARSA):c.243C>T (p.Gly81=) rs6151410 0.02425
NM_000487.6(ARSA):c.624T>C (p.His208=) rs113990230 0.01000
NM_000487.6(ARSA):c.1002C>T (p.Ser334=) rs147027229 0.00358
NM_000487.6(ARSA):c.466-7G>C rs6151414 0.00294
NM_000487.6(ARSA):c.659C>T (p.Pro220Leu) rs201251634 0.00261
NM_000487.6(ARSA):c.636C>T (p.Ala212=) rs200182983 0.00021
NM_000487.6(ARSA):c.972C>T (p.Ile324=) rs200567315 0.00011
NM_000487.6(ARSA):c.1345G>A (p.Gly449Arg) rs117341984 0.00009
NM_000487.6(ARSA):c.558C>T (p.Asn186=) rs574416131 0.00001
NM_000487.6(ARSA):c.1210+13C>A rs6151426
NM_000487.6(ARSA):c.1210+13del rs2146717560
NM_000487.6(ARSA):c.1211-8del rs1342017537
NM_000487.6(ARSA):c.224+12del rs775260029
NM_000487.6(ARSA):c.495G>A (p.Pro165=) rs145299072
NM_000487.6(ARSA):c.937C>A (p.Arg313=) rs551472773

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