ClinVar Miner

List of variants reported as likely pathogenic for Metachromatic leukodystrophy by Counsyl

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Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_000487.6(ARSA):c.1010A>T (p.Asp337Val) rs74315475 0.00006
NM_000487.6(ARSA):c.293C>T (p.Ser98Phe) rs74315456 0.00004
NM_000487.6(ARSA):c.474C>A (p.Cys158Ter) rs768028181 0.00004
NM_000487.6(ARSA):c.1264del (p.Ser421_Leu422insTer) rs755635209 0.00003
NM_000487.6(ARSA):c.542dup (p.Leu183fs) rs776748338 0.00003
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser) rs74315459 0.00003
NM_000487.6(ARSA):c.346C>T (p.Arg116Ter) rs761860059 0.00002
NM_000487.6(ARSA):c.960G>A (p.Trp320Ter) rs1375757476 0.00002
NM_000487.6(ARSA):c.979G>A (p.Gly327Ser) rs148092995 0.00002
NM_000487.6(ARSA):c.1150G>A (p.Glu384Lys) rs74315479 0.00001
NM_000487.6(ARSA):c.1174C>T (p.Arg392Trp) rs74315480 0.00001
NM_000487.6(ARSA):c.195del (p.Phe64_Tyr65insTer) rs398123414 0.00001
NM_000487.6(ARSA):c.526C>T (p.Gln176Ter) rs762284875 0.00001
NM_000487.6(ARSA):c.608A>G (p.Tyr203Cys) rs199476345 0.00001
NM_000487.6(ARSA):c.736C>T (p.Arg246Cys) rs74315470 0.00001
NM_000487.6(ARSA):c.737G>A (p.Arg246His) rs199476366 0.00001
NM_000487.6(ARSA):c.746T>C (p.Phe249Ser) rs199476384 0.00001
NM_000487.6(ARSA):c.769G>C (p.Asp257His) rs80338819 0.00001
NM_000487.6(ARSA):c.827C>T (p.Thr276Met) rs74315472 0.00001
NM_000487.6(ARSA):c.868C>T (p.Arg290Cys) rs74315473 0.00001
NM_000487.6(ARSA):c.883G>A (p.Gly295Ser) rs199476349 0.00001
NM_000487.6(ARSA):c.938G>A (p.Arg313Gln) rs199476382 0.00001
NM_000487.6(ARSA):c.1036del (p.Ala346fs) rs1555900463
NM_000487.6(ARSA):c.109_116del (p.Asp37fs) rs753415648
NM_000487.6(ARSA):c.1107+1del rs1057517036
NM_000487.6(ARSA):c.1114C>T (p.Arg372Trp) rs74315476
NM_000487.6(ARSA):c.1210+1G>T rs80338820
NM_000487.6(ARSA):c.1222_1232del (p.Ser408fs) rs1555900191
NM_000487.6(ARSA):c.1223_1231del (p.Ser408_Thr410del) rs765905826
NM_000487.6(ARSA):c.1323del (p.Asn440_Tyr441insTer) rs1555900150
NM_000487.6(ARSA):c.1337del (p.Gly446fs) rs750030142
NM_000487.6(ARSA):c.1344dup (p.Gly449fs) rs761555167
NM_000487.6(ARSA):c.1388del (p.Leu463fs) rs1057517237
NM_000487.6(ARSA):c.1492dup (p.Arg498fs) rs774153480
NM_000487.6(ARSA):c.185_186dup (p.Asp63fs) rs1227301119
NM_000487.6(ARSA):c.206_209del (p.Ser69fs) rs1555901112
NM_000487.6(ARSA):c.211_212del (p.Cys71fs) rs1057516288
NM_000487.6(ARSA):c.224+1G>A rs1555901108
NM_000487.6(ARSA):c.225-2A>G rs1555901083
NM_000487.6(ARSA):c.227_228insTA (p.Ala77fs) rs1057516595
NM_000487.6(ARSA):c.240dup (p.Gly81fs) rs786204599
NM_000487.6(ARSA):c.295dup (p.Arg99fs) rs1555901056
NM_000487.6(ARSA):c.2T>C (p.Met1Thr) rs1555901170
NM_000487.6(ARSA):c.304del (p.Leu102fs) rs786204673
NM_000487.6(ARSA):c.418del (p.His140fs) rs745884435
NM_000487.6(ARSA):c.418dup (p.His140fs) rs745884435
NM_000487.6(ARSA):c.421C>T (p.Gln141Ter) rs1057516730
NM_000487.6(ARSA):c.465+2T>A rs1555900989
NM_000487.6(ARSA):c.466-2A>G rs1057517044
NM_000487.6(ARSA):c.494dup (p.Pro166fs) rs1057517346
NM_000487.6(ARSA):c.545del (p.Pro182fs) rs1057516907
NM_000487.6(ARSA):c.622del (p.His208fs) rs1555900900
NM_000487.6(ARSA):c.674_675dup (p.Ala226fs) rs1057516373
NM_000487.6(ARSA):c.739G>A (p.Gly247Arg) rs74315471
NM_000487.6(ARSA):c.758dup (p.Met254fs) rs74315270
NM_000487.6(ARSA):c.763G>A (p.Glu255Lys) rs74315483
NM_000487.6(ARSA):c.877C>T (p.Arg293Ter) rs1555900678
NM_000487.6(ARSA):c.891del (p.Gly298fs) rs1057517073
NM_000487.6(ARSA):c.925dup (p.Glu309fs) rs1555900623
NM_000487.6(ARSA):c.929del (p.Gly310fs) rs1057516638
NM_000487.6(ARSA):c.937C>T (p.Arg313Ter) rs551472773
NM_000487.6(ARSA):c.979+1G>A rs754722529
NM_000487.6(ARSA):c.979_979+3del rs1057516887
NM_000487.6(ARSA):c.980-2A>C rs769152137
NM_000487.6(ARSA):c.986C>T (p.Thr329Ile) rs398123418
NM_000487.6(ARSA):c.991G>T (p.Glu331Ter) rs398123419

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