ClinVar Miner

List of variants studied for Choreoacanthocytosis by Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen

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Total variants: 17
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NM_033305.3(VPS13A):c.1758T>C (p.Ala586=) rs149037185
NM_033305.3(VPS13A):c.2037+8C>A rs41289961
NM_033305.3(VPS13A):c.2667+11C>T rs375898960
NM_033305.3(VPS13A):c.4642G>A (p.Glu1548Lys) rs41289967
NM_033305.3(VPS13A):c.4760A>G (p.Tyr1587Cys) rs149840356
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys) rs149694033
NM_033305.3(VPS13A):c.6492T>C (p.Asp2164=) rs7025532
NM_033305.3(VPS13A):c.6690C>T (p.Asp2230=) rs139115188
NM_033305.3(VPS13A):c.6880-19G>C rs183040221
NM_033305.3(VPS13A):c.7456A>G (p.Ile2486Val) rs142981309
NM_033305.3(VPS13A):c.7457T>C (p.Ile2486Thr) rs141138349
NM_033305.3(VPS13A):c.775A>G (p.Asn259Asp) rs41307461
NM_033305.3(VPS13A):c.8676C>T (p.Ile2892=) rs117485827
NM_033305.3(VPS13A):c.9069A>G (p.Gly3023=) rs3737289
NM_033305.3(VPS13A):c.9189+2545TGA[6] rs113052866
NM_033305.3(VPS13A):c.9370C>A (p.His3124Asn) rs117983287
NM_033305.3(VPS13A):c.9400-15A>C rs117688596

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