ClinVar Miner

List of variants in gene NUBPL reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_025152.3(NUBPL):c.*736C>G rs111321293 0.00901
NM_025152.3(NUBPL):c.-1C>T rs45468395 0.00691
NM_025152.3(NUBPL):c.593A>C (p.Asn198Thr) rs11558436 0.00480
NM_025152.3(NUBPL):c.815-27T>C rs118161496 0.00348
NM_025152.3(NUBPL):c.545T>C (p.Val182Ala) rs61752327 0.00260
NM_025152.3(NUBPL):c.685C>T (p.His229Tyr) rs35867418 0.00121
NM_025152.3(NUBPL):c.217G>T (p.Ala73Ser) rs745351097 0.00007
NM_025152.3(NUBPL):c.956A>G (p.Glu319Gly) rs563851669 0.00002
NM_025152.3(NUBPL):c.71C>T (p.Pro24Leu) rs556060060 0.00001

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