ClinVar Miner

List of variants reported as uncertain significance for Canavan disease

Included ClinVar conditions (1):
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Total variants: 26
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HGVS dbSNP
NM_000049.3(ASPA):c.*246G>A rs769255741
NM_000049.3(ASPA):c.*27C>T rs151133430
NM_000049.3(ASPA):c.-105T>C rs886052822
NM_000049.3(ASPA):c.-152C>T rs886052821
NM_000049.3(ASPA):c.170C>T (p.Ala57Val) rs1555538148
NM_000049.3(ASPA):c.188G>C (p.Arg63Thr) rs1555538151
NM_000049.3(ASPA):c.237-2A>T rs780936696
NM_000049.3(ASPA):c.427A>G (p.Ile143Val) rs199565861
NM_000049.3(ASPA):c.427A>T (p.Ile143Phe) rs199565861
NM_000049.3(ASPA):c.428T>C (p.Ile143Thr) rs777936704
NM_000049.3(ASPA):c.432G>A (p.Lys144=) rs754087904
NM_000049.3(ASPA):c.509T>C (p.Ile170Thr) rs144321760
NM_000049.3(ASPA):c.539G>T (p.Gly180Val) rs1014551540
NM_000049.3(ASPA):c.542C>T (p.Pro181Leu) rs1335267315
NM_000049.3(ASPA):c.556del (p.Val186fs) rs1567614635
NM_000049.3(ASPA):c.613_621del (p.Phe205_His207del) rs1555539888
NM_000049.3(ASPA):c.770C>G (p.Pro257Arg) rs377217076
NM_000049.3(ASPA):c.788T>C (p.Leu263Ser)
NM_000049.3(ASPA):c.807G>A (p.Thr269=) rs759106494
NM_000049.3(ASPA):c.838C>T (p.Pro280Ser) rs750505963
NM_000049.3(ASPA):c.839C>T (p.Pro280Leu) rs1555541310
NM_000049.3(ASPA):c.875_877AAG[1] (p.Glu293del) rs1555541321
NM_000049.3(ASPA):c.89T>C (p.Leu30Pro) rs1555538144
NM_000049.3(ASPA):c.905C>T (p.Thr302Met) rs763869261
NM_000049.3(ASPA):c.906G>A (p.Thr302=) rs371394875
NM_000049.3(ASPA):c.935T>G (p.Leu312Ter) rs1555541343

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