ClinVar Miner

List of variants studied for Canavan disease by Invitae

Included ClinVar conditions (1):
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Total variants: 12
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HGVS dbSNP
NC_000017.10:g.(?_3392519)_(3402392_?)del
NC_000017.10:g.(?_3392529)_(3632849_?)del
NM_000049.3(ASPA):c.212G>A (p.Arg71His) rs104894553
NM_000049.3(ASPA):c.541C>A (p.Pro181Thr) rs786204572
NM_000049.3(ASPA):c.550C>T (p.Gln184Ter)
NM_000049.3(ASPA):c.693C>A (p.Tyr231Ter) rs12948217
NM_000049.3(ASPA):c.788T>C (p.Leu263Ser)
NM_000049.3(ASPA):c.831C>T (p.Thr277=) rs78677072
NM_000049.3(ASPA):c.854A>C (p.Glu285Ala) rs28940279
NM_000049.3(ASPA):c.927C>T (p.Arg309=) rs749049390
NM_000049.4(ASPA):c.914C>A (p.Ala305Glu) rs28940574
NM_001321336.1(SPATA22):c.-73-6908dup

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