ClinVar Miner

List of variants in gene NUP205 studied for idiopathic disease

Included ClinVar conditions (89):
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Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_015135.3(NUP205):c.4066G>C (p.Glu1356Gln) rs7810767 0.98537
NM_015135.3(NUP205):c.4793+11G>A rs7810260 0.45573
NM_015135.3(NUP205):c.649-11T>C rs10252250 0.39418
NM_015135.3(NUP205):c.5559+4C>T rs10260691 0.31332
NM_015135.3(NUP205):c.4425C>T (p.Ala1475=) rs146766044 0.00265
NM_015135.3(NUP205):c.2961C>G (p.Ile987Met) rs61756073 0.00021
NM_015135.3(NUP205):c.5984T>C (p.Phe1995Ser) rs869312984 0.00001
NM_015135.3(NUP205):c.1851A>C (p.Ala617=) rs7800214
NM_015135.3(NUP205):c.2068G>A (p.Glu690Lys)
NM_015135.3(NUP205):c.2453T>C (p.Leu818Pro)
NM_015135.3(NUP205):c.3329T>C (p.Leu1110Pro) rs1584675898
NM_015135.3(NUP205):c.490C>T (p.Pro164Ser)
NM_015135.3(NUP205):c.5246T>C (p.Ile1749Thr)
NM_015135.3(NUP205):c.5789T>A (p.Leu1930Ter)
NM_015135.3(NUP205):c.821C>T (p.Ala274Val)

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