ClinVar Miner

List of variants reported as pathogenic for Choreoacanthocytosis by OMIM

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Total variants: 10
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HGVS dbSNP
NM_033305.3(VPS13A):c.1305G>A (p.Trp435Ter)
NM_033305.3(VPS13A):c.269T>A (p.Ile90Lys) rs119477052
NM_033305.3(VPS13A):c.622C>T (p.Arg208Ter) rs119477053
NM_033305.3(VPS13A):c.6404dup (p.Ser2136fs)
NM_033305.3(VPS13A):c.8035G>A (p.Ala2679Thr)
VPS13A, 1-BP DEL, 6059C
VPS13A, 2-BP DUP, 3556AC
VPS13A, 260-BP DEL
VPS13A, 37-KB DEL
VPS13A, 7-KB DEL

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