ClinVar Miner

List of variants in gene VPS53 studied for Pontocerebellar hypoplasia type 2E

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_001128159.3(VPS53):c.2328+15A>G rs2034088 0.63097
NM_001128159.3(VPS53):c.1218+817A>G rs11247553 0.48461
NM_001128159.3(VPS53):c.-90C>T rs2474694 0.44823
NM_001128159.3(VPS53):c.1867-81C>T rs7219151 0.40515
NM_001128159.3(VPS53):c.218+102C>G rs2543781 0.38294
NM_001128159.3(VPS53):c.1524C>T (p.Tyr508=) rs2075443 0.33961
NM_001128159.3(VPS53):c.219-11T>C rs4968100 0.19527
NM_001128159.3(VPS53):c.81C>T (p.Ile27=) rs11558129 0.16882
NM_001128159.3(VPS53):c.1867-71T>C rs12951098 0.15268
NM_001128159.3(VPS53):c.2062A>G (p.Ile688Val) rs140376049 0.00139
NM_001128159.3(VPS53):c.2365C>G (p.Leu789Val) rs1010638222 0.00009
NM_001128159.3(VPS53):c.1247C>A (p.Pro416Gln) rs766555766 0.00007
NM_001128159.3(VPS53):c.1312_1313+2del rs768997239 0.00003
NM_001128159.3(VPS53):c.1556+5G>A rs587777466 0.00001
NM_001128159.3(VPS53):c.2329G>C (p.Gly777Arg) rs1191869765 0.00001
NM_001128159.3(VPS53):c.2420T>C (p.Leu807Pro) rs771439682 0.00001
NM_001128159.3(VPS53):c.584C>T (p.Pro195Leu) rs548219603 0.00001
NM_001128159.3(VPS53):c.959T>G (p.Phe320Cys) rs1302881349 0.00001
NM_001128159.3(VPS53):c.1314-19dup rs36070043
NM_001128159.3(VPS53):c.1516C>T (p.Arg506Ter) rs200594402
NM_001128159.3(VPS53):c.2006A>G (p.Lys669Arg) rs1910135011
NM_001128159.3(VPS53):c.2084A>G (p.Gln695Arg) rs587777465
NM_001128159.3(VPS53):c.2347C>T (p.Gln783Ter) rs1434668575
NM_001128159.3(VPS53):c.692C>T (p.Pro231Leu) rs1472685858

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