ClinVar Miner

List of variants in gene VPS13A reported as likely pathogenic for chorea-acanthocytosis

Included ClinVar conditions (1):
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Gene type:
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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_033305.3(VPS13A):c.3961-2A>C rs1244139989 0.00004
NM_033305.3(VPS13A):c.6404dup (p.Ser2136fs) rs951347128 0.00003
NM_033305.3(VPS13A):c.7953+1G>A rs372141290 0.00002
NM_033305.3(VPS13A):c.7867C>T (p.Arg2623Ter) rs1055609567 0.00001
NM_033305.3(VPS13A):c.8325+1G>A rs1459022689 0.00001
NM_033305.3(VPS13A):c.14C>A (p.Ser5Ter) rs2131030007
NM_033305.3(VPS13A):c.1616C>G (p.Ser539Ter)
NM_033305.3(VPS13A):c.1A>T (p.Met1Leu) rs2131029946
NM_033305.3(VPS13A):c.2252_2253insGA (p.Lys752fs) rs1825188183
NM_033305.3(VPS13A):c.2500del (p.Val834fs) rs2131325474
NM_033305.3(VPS13A):c.2513-2A>T rs1037030970
NM_033305.3(VPS13A):c.3114del (p.Lys1038fs)
NM_033305.3(VPS13A):c.3743_3746dup (p.Ser1249fs)
NM_033305.3(VPS13A):c.4246dup (p.Ser1416fs) rs2131427489
NM_033305.3(VPS13A):c.4356del (p.Ser1452_Leu1453insTer)
NM_033305.3(VPS13A):c.4715del (p.Asn1572fs) rs2131432786
NM_033305.3(VPS13A):c.5574+1G>A rs1829731758
NM_033305.3(VPS13A):c.6379-1G>C
NM_033305.3(VPS13A):c.6818C>A (p.Ser2273Ter) rs1830740171
NM_033305.3(VPS13A):c.7027-1G>A
NM_033305.3(VPS13A):c.8375C>G (p.Ser2792Ter) rs756865623
NM_033305.3(VPS13A):c.844_848del (p.Glu282fs)
NM_033305.3(VPS13A):c.8668-1G>A rs2131587158
NM_033305.3(VPS13A):c.8744-2A>G
NM_033305.3(VPS13A):c.9243_9246del (p.Asn3082fs)
NM_033305.3(VPS13A):c.9263T>G (p.Met3088Arg)
NM_033305.3(VPS13A):c.9431_9432del (p.Glu3144fs) rs1085307750
Single allele

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