ClinVar Miner

List of variants in gene PSAP reported as likely benign for Metachromatic leukodystrophy

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP
NM_001042465.2(PSAP):c.-118G>A rs28365838
NM_001042465.3(PSAP):c.*73C>T rs541692197
NM_001042465.3(PSAP):c.-22G>C rs569841336
NM_001042465.3(PSAP):c.1021A>G (p.Ile341Val) rs544300820
NM_001042465.3(PSAP):c.1270C>T (p.Arg424Cys) rs529719024
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.570G>T (p.Gln190His) rs142272618
NM_002778.3(PSAP):c.-33T>C rs143987544
NM_002778.3(PSAP):c.-65C>T rs145948209
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.-10A>G rs76455588
NM_002778.4(PSAP):c.-28A>C rs375720661
NM_002778.4(PSAP):c.-29C>T rs201780377
NM_002778.4(PSAP):c.1056C>T (p.Ser352=) rs138328594
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.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

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