ClinVar Miner

List of variants in gene VPS13A reported as likely benign for Choreoacanthocytosis

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Gene type:
ClinVar version:
Total variants: 45
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HGVS dbSNP
NM_015186.3(VPS13A):c.-181G>A rs117488726
NM_015186.3(VPS13A):c.-183G>C rs12349389
NM_033305.3(VPS13A):c.*1186A>G rs3177
NM_033305.3(VPS13A):c.*222G>A rs12343797
NM_033305.3(VPS13A):c.*565G>A rs989391
NM_033305.3(VPS13A):c.*942C>T rs1048743
NM_033305.3(VPS13A):c.1020A>G (p.Glu340=) rs76751358
NM_033305.3(VPS13A):c.1758T>C (p.Ala586=) rs149037185
NM_033305.3(VPS13A):c.2037+8C>A rs41289961
NM_033305.3(VPS13A):c.2391A>G (p.Pro797=) rs73466058
NM_033305.3(VPS13A):c.2667+11C>T rs375898960
NM_033305.3(VPS13A):c.2718A>G (p.Val906=) rs79287753
NM_033305.3(VPS13A):c.283+20del rs199782752
NM_033305.3(VPS13A):c.2964+13A>G rs115996561
NM_033305.3(VPS13A):c.3045G>A (p.Pro1015=) rs11145366
NM_033305.3(VPS13A):c.3083A>G (p.Glu1028Gly) rs148656796
NM_033305.3(VPS13A):c.3108T>C (p.Ile1036=) rs78046172
NM_033305.3(VPS13A):c.3961-6del rs3216012
NM_033305.3(VPS13A):c.4041C>T (p.Ala1347=) rs74983687
NM_033305.3(VPS13A):c.4469G>A (p.Arg1490Lys) rs76077278
NM_033305.3(VPS13A):c.4509A>G (p.Gln1503=) rs79914457
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.4927G>A (p.Asp1643Asn) rs74622901
NM_033305.3(VPS13A):c.5583A>G (p.Thr1861=) rs17423984
NM_033305.3(VPS13A):c.5747G>A (p.Ser1916Asn) rs73467962
NM_033305.3(VPS13A):c.5802A>G (p.Leu1934=) rs73654012
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys) rs149694033
NM_033305.3(VPS13A):c.6027C>T (p.Tyr2009=) rs17424026
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.6880-6dup rs140476942
NM_033305.3(VPS13A):c.7155G>A (p.Glu2385=) rs73449933
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.7806+6A>G rs74810255
NM_033305.3(VPS13A):c.8350T>G (p.Ser2784Ala) rs368916151
NM_033305.3(VPS13A):c.8571T>C (p.Tyr2857=) rs17340192
NM_033305.3(VPS13A):c.8676C>T (p.Ile2892=) rs117485827
NM_033305.3(VPS13A):c.9189+2545TGA[6] rs113052866
NM_033305.3(VPS13A):c.9189+2545TGA[9] rs113052866
NM_033305.3(VPS13A):c.9370C>A (p.His3124Asn) rs117983287
NM_033305.3(VPS13A):c.9400-15A>C rs117688596

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