ClinVar Miner

List of variants reported as uncertain significance for Canavan disease by Counsyl

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP
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.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.770C>G (p.Pro257Arg) rs377217076
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.89T>C (p.Leu30Pro) rs1555538144
NM_000049.3(ASPA):c.935T>G (p.Leu312Ter) rs1555541343
NM_001321336.1(SPATA22):c.-73-19929_-73-19921del rs1555539888
NM_001321336.1(SPATA22):c.-74+14389_-74+14391del rs1555541321

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