ClinVar Miner

List of variants in gene PSAP studied for Metachromatic leukodystrophy

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Gene type:
ClinVar version:
Total variants: 55
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HGVS dbSNP
NM_001042465.2(PSAP):c.-118G>A rs28365838
NM_001042465.3(PSAP):c.*113C>T rs544214520
NM_001042465.3(PSAP):c.*73C>T rs541692197
NM_001042465.3(PSAP):c.*859C>T rs886047149
NM_001042465.3(PSAP):c.*9A>G rs376628499
NM_001042465.3(PSAP):c.-22G>C rs569841336
NM_001042465.3(PSAP):c.1009A>T (p.Thr337Ser) rs749663645
NM_001042465.3(PSAP):c.1021A>G (p.Ile341Val) rs544300820
NM_001042465.3(PSAP):c.1097C>T (p.Thr366Met) rs140066253
NM_001042465.3(PSAP):c.112A>T (p.Thr38Ser) rs535525554
NM_001042465.3(PSAP):c.1267G>A (p.Asp423Asn) rs760621775
NM_001042465.3(PSAP):c.1270C>T (p.Arg424Cys) rs529719024
NM_001042465.3(PSAP):c.1441-4A>G rs775086571
NM_001042465.3(PSAP):c.167C>G (p.Pro56Arg) rs571773332
NM_001042465.3(PSAP):c.227T>A (p.Met76Lys) rs377024801
NM_001042465.3(PSAP):c.250-12G>A rs886047152
NM_001042465.3(PSAP):c.380G>A (p.Arg127His) rs886047151
NM_001042465.3(PSAP):c.40+12G>A rs886047153
NM_001042465.3(PSAP):c.557G>A (p.Arg186His) rs138880818
NM_001042465.3(PSAP):c.570G>T (p.Gln190His) rs142272618
NM_001042465.3(PSAP):c.807G>A (p.Ala269=) rs199672678
NM_001042465.3(PSAP):c.920A>G (p.Lys307Arg) rs757553906
NM_002778.3(PSAP):c.-33T>C rs143987544
NM_002778.3(PSAP):c.-50G>T rs886047154
NM_002778.3(PSAP):c.-56A>G rs534586960
NM_002778.3(PSAP):c.-62A>G rs886047155
NM_002778.3(PSAP):c.-65C>T rs145948209
NM_002778.3(PSAP):c.-99T>G rs886047156
NM_002778.4(PSAP):c.*122C>G rs113284884
NM_002778.4(PSAP):c.*276G>A rs547409137
NM_002778.4(PSAP):c.*574G>C rs549402343
NM_002778.4(PSAP):c.*775G>A rs79662404
NM_002778.4(PSAP):c.*935A>G rs886047148
NM_002778.4(PSAP):c.-10A>G rs76455588
NM_002778.4(PSAP):c.-28A>C rs375720661
NM_002778.4(PSAP):c.-29C>T rs201780377
NM_002778.4(PSAP):c.-4C>T rs2070188
NM_002778.4(PSAP):c.1056C>T (p.Ser352=) rs138328594
NM_002778.4(PSAP):c.1172C>T (p.Thr391Met) rs202125074
NM_002778.4(PSAP):c.1278C>T (p.Asn426=) rs777227555
NM_002778.4(PSAP):c.1380C>T (p.Pro460=) rs1049882
NM_002778.4(PSAP):c.1452G>A (p.Ser484=) rs114389264
NM_002778.4(PSAP):c.1456C>T (p.His486Tyr) rs749660716
NM_002778.4(PSAP):c.1476T>C (p.Thr492=) rs139178900
NM_002778.4(PSAP):c.174+9C>T rs141133813
NM_002778.4(PSAP):c.189C>T (p.Cys63=) rs111369573
NM_002778.4(PSAP):c.204C>T (p.Asp68=) rs143981174
NM_002778.4(PSAP):c.336C>T (p.Ser112=) rs370977178
NM_002778.4(PSAP):c.41-13G>C rs138010978
NM_002778.4(PSAP):c.577-10T>C rs185892516
NM_002778.4(PSAP):c.714C>G (p.Ala238=) rs141199649
NM_002778.4(PSAP):c.78C>T (p.Thr26=) rs74145688
NM_002778.4(PSAP):c.88G>T (p.Ala30Ser) rs144942998
NM_002778.4(PSAP):c.923C>T (p.Pro308Leu) rs886047150
NM_002778.4(PSAP):c.94T>G (p.Trp32Gly) rs200008050

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