ClinVar Miner

List of variants in gene PSAP reported as uncertain significance for Metachromatic leukodystrophy

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Gene type:
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Total variants: 24
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HGVS dbSNP
NM_002778.3(PSAP):c.*113C>T rs544214520
NM_002778.3(PSAP):c.*859C>T rs886047149
NM_002778.3(PSAP):c.*935A>G rs886047148
NM_002778.3(PSAP):c.*9A>G rs376628499
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.-99T>G rs886047156
NM_002778.3(PSAP):c.1000A>T (p.Thr334Ser) rs749663645
NM_002778.3(PSAP):c.1088C>T (p.Thr363Met) rs140066253
NM_002778.3(PSAP):c.112A>T (p.Thr38Ser) rs535525554
NM_002778.3(PSAP):c.1172C>T (p.Thr391Met) rs202125074
NM_002778.3(PSAP):c.1258G>A (p.Asp420Asn) rs760621775
NM_002778.3(PSAP):c.1278C>T (p.Asn426=) rs777227555
NM_002778.3(PSAP):c.1432-4A>G rs775086571
NM_002778.3(PSAP):c.1456C>T (p.His486Tyr) rs749660716
NM_002778.3(PSAP):c.250-12G>A rs886047152
NM_002778.3(PSAP):c.380G>A (p.Arg127His) rs886047151
NM_002778.3(PSAP):c.40+12G>A rs886047153
NM_002778.3(PSAP):c.557G>A (p.Arg186His) rs138880818
NM_002778.3(PSAP):c.798G>A (p.Ala266=) rs199672678
NM_002778.3(PSAP):c.911A>G (p.Lys304Arg) rs757553906
NM_002778.3(PSAP):c.923C>T (p.Pro308Leu) rs886047150
NM_002778.3(PSAP):c.94T>G (p.Trp32Gly) rs200008050

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