ClinVar Miner

List of variants reported as likely pathogenic for Canavan disease by Counsyl

Included ClinVar conditions (1):
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Total variants: 37
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HGVS dbSNP
NM_000049.3(ASPA):c.212G>A (p.Arg71His) rs104894553
NM_000049.3(ASPA):c.236+1G>A rs1555538157
NM_000049.3(ASPA):c.237-1G>A rs1057517291
NM_000049.3(ASPA):c.237-1G>T rs1057517291
NM_000049.3(ASPA):c.237-2A>T rs780936696
NM_000049.3(ASPA):c.244_245del (p.Met82fs) rs786204620
NM_000049.3(ASPA):c.244dup (p.Met82fs) rs756198538
NM_000049.3(ASPA):c.245del (p.Met82fs) rs1057516962
NM_000049.3(ASPA):c.2T>C (p.Met1Thr) rs1057516879
NM_000049.3(ASPA):c.32del (p.Ile11fs) rs767666474
NM_000049.3(ASPA):c.340G>T (p.Asp114Tyr) rs1446467099
NM_000049.3(ASPA):c.382del (p.Glu129fs) rs1555538825
NM_000049.3(ASPA):c.47T>C (p.Ile16Thr) rs769653717
NM_000049.3(ASPA):c.503G>A (p.Arg168His) rs770706390
NM_000049.3(ASPA):c.514_515dup (p.Tyr173fs) rs1555539105
NM_000049.3(ASPA):c.527-2A>C rs778385612
NM_000049.3(ASPA):c.541C>A (p.Pro181Thr) rs786204572
NM_000049.3(ASPA):c.548C>A (p.Pro183His) rs1555539857
NM_000049.3(ASPA):c.626del (p.Phe209fs) rs1555539897
NM_000049.3(ASPA):c.640G>T (p.Glu214Ter) rs1057516416
NM_000049.3(ASPA):c.650_651del (p.Pro217fs) rs1057516498
NM_000049.3(ASPA):c.679_682del (p.Glu227fs) rs1555540674
NM_000049.3(ASPA):c.697del (p.Arg233fs) rs1057516315
NM_000049.3(ASPA):c.731A>G (p.His244Arg) rs1057516995
NM_000049.3(ASPA):c.745-1G>A rs1555541278
NM_000049.3(ASPA):c.745-2A>G rs1057517066
NM_000049.3(ASPA):c.746A>T (p.Asp249Val) rs104894552
NM_000049.3(ASPA):c.796dup (p.Asp266fs) rs1555541291
NM_000049.3(ASPA):c.79G>A (p.Gly27Arg) rs766328537
NM_000049.3(ASPA):c.820G>A (p.Gly274Arg) rs761064915
NM_000049.3(ASPA):c.827_828del (p.Cys276fs) rs1057517085
NM_000049.3(ASPA):c.831del (p.Val278fs) rs1555541304
NM_000049.3(ASPA):c.859G>A (p.Ala287Thr) rs774323189
NM_000049.3(ASPA):c.867C>A (p.Tyr289Ter) rs375736464
NM_000049.3(ASPA):c.872_875AGAA[1] (p.Glu293fs) rs766720790
NM_000049.3(ASPA):c.922del (p.Ile308fs) rs1057516309
NM_000049.3(ASPA):c.924del (p.Arg309fs) rs1057517260

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