ClinVar Miner

List of variants reported as uncertain significance for chorea-acanthocytosis by Natera, Inc.

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_033305.3(VPS13A):c.5831-8T>C rs113702270 0.00190
NM_033305.3(VPS13A):c.3078T>G (p.Thr1026=) rs141835897 0.00171
NM_033305.3(VPS13A):c.5265C>T (p.Gly1755=) rs143021112 0.00096
NM_033305.3(VPS13A):c.5471A>G (p.Tyr1824Cys) rs144290291 0.00035
NM_033305.3(VPS13A):c.6541G>A (p.Val2181Ile) rs146158125 0.00017
NM_033305.3(VPS13A):c.9314T>A (p.Leu3105His) rs141321409 0.00014
NM_033305.3(VPS13A):c.971A>G (p.His324Arg) rs138568018 0.00014
NM_033305.3(VPS13A):c.3733A>G (p.Met1245Val) rs145398548 0.00013
NM_033305.3(VPS13A):c.787G>A (p.Val263Met) rs372957084 0.00013
NM_033305.3(VPS13A):c.1660C>T (p.Leu554Phe) rs147115148 0.00011
NM_033305.3(VPS13A):c.699C>T (p.Asp233=) rs138009035 0.00011
NM_033305.3(VPS13A):c.3282C>T (p.Asn1094=) rs372019796 0.00010
NM_033305.3(VPS13A):c.3706C>T (p.Leu1236=) rs189138644 0.00007
NM_033305.3(VPS13A):c.4826C>T (p.Pro1609Leu) rs755454094 0.00006
NM_033305.3(VPS13A):c.7658A>T (p.Asp2553Val) rs758912053 0.00006
NM_033305.3(VPS13A):c.5753A>G (p.Asp1918Gly) rs377418680 0.00005
NM_033305.3(VPS13A):c.5898A>G (p.Val1966=) rs1042736663 0.00004
NM_033305.3(VPS13A):c.7179G>A (p.Val2393=) rs779653365 0.00004
NM_033305.3(VPS13A):c.1197T>C (p.Thr399=) rs760025315 0.00003
NM_033305.3(VPS13A):c.3146T>C (p.Ile1049Thr) rs1437731472 0.00003
NM_033305.3(VPS13A):c.4539T>C (p.Phe1513=) rs143022525 0.00003
NM_033305.3(VPS13A):c.7278A>G (p.Gln2426=) rs554457655 0.00003
NM_033305.3(VPS13A):c.7340A>G (p.Tyr2447Cys) rs574650880 0.00003
NM_033305.3(VPS13A):c.116A>G (p.Lys39Arg) rs960135788 0.00002
NM_033305.3(VPS13A):c.1824A>G (p.Pro608=) rs750307161 0.00002
NM_033305.3(VPS13A):c.2395A>T (p.Thr799Ser) rs764645153 0.00002
NM_033305.3(VPS13A):c.3075C>T (p.Ser1025=) rs916979346 0.00002
NM_033305.3(VPS13A):c.4470G>A (p.Arg1490=) rs369976472 0.00002
NM_033305.3(VPS13A):c.588T>C (p.His196=) rs192380515 0.00002
NM_033305.3(VPS13A):c.6489C>T (p.His2163=) rs773384343 0.00002
NM_033305.3(VPS13A):c.7188C>T (p.Ala2396=) rs747802503 0.00002
NM_033305.3(VPS13A):c.1783G>T (p.Ala595Ser) rs757058290 0.00001
NM_033305.3(VPS13A):c.2089A>G (p.Asn697Asp) rs549929120 0.00001
NM_033305.3(VPS13A):c.3556A>G (p.Thr1186Ala) rs542933158 0.00001
NM_033305.3(VPS13A):c.4950A>G (p.Thr1650=) rs767739134 0.00001
NM_033305.3(VPS13A):c.610C>T (p.Arg204Cys) rs752509925 0.00001
NM_033305.3(VPS13A):c.6785T>C (p.Met2262Thr) rs763311249 0.00001
NM_033305.3(VPS13A):c.7129T>C (p.Cys2377Arg) rs1438436648 0.00001
NM_033305.3(VPS13A):c.7290-10A>G rs777376932 0.00001
NM_033305.3(VPS13A):c.8233A>G (p.Ile2745Val) rs780530847 0.00001
NM_033305.3(VPS13A):c.8356A>C (p.Arg2786=) rs752608628 0.00001
NM_033305.3(VPS13A):c.2783C>T (p.Ala928Val) rs757651034
NM_033305.3(VPS13A):c.2982G>C (p.Leu994Phe) rs1169530629
NM_033305.3(VPS13A):c.3637A>G (p.Ile1213Val) rs1172751806
NM_033305.3(VPS13A):c.3658A>C (p.Ile1220Leu) rs1232607771
NM_033305.3(VPS13A):c.4185C>T (p.Asn1395=) rs773982653
NM_033305.3(VPS13A):c.4765G>A (p.Gly1589Ser) rs1829384544
NM_033305.3(VPS13A):c.496-9C>T rs370541609
NM_033305.3(VPS13A):c.5003T>G (p.Leu1668Arg) rs372255312
NM_033305.3(VPS13A):c.5041T>G (p.Ser1681Ala) rs1181531896
NM_033305.3(VPS13A):c.505C>T (p.Arg169Trp) rs139380985
NM_033305.3(VPS13A):c.5248C>T (p.Arg1750Cys) rs149067717
NM_033305.3(VPS13A):c.5532A>C (p.Thr1844=) rs370144264
NM_033305.3(VPS13A):c.6018G>A (p.Leu2006=) rs201300715
NM_033305.3(VPS13A):c.6200G>A (p.Cys2067Tyr) rs770789453

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