ClinVar Miner

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

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_006393.3(NEBL):c.180G>C (p.Lys60Asn) rs41277374 0.00382
NM_006393.3(NEBL):c.2654C>T (p.Ser885Phe) rs143584663 0.00245
NM_006393.3(NEBL):c.109T>C (p.Leu37=) rs140734883 0.00213
NM_006393.3(NEBL):c.604G>A (p.Gly202Arg) rs137973321 0.00210
NM_006393.3(NEBL):c.2964C>T (p.Asp988=) rs144946187 0.00022
NM_006393.3(NEBL):c.792G>A (p.Ala264=) rs375771045 0.00005
NM_006393.3(NEBL):c.1227+4C>T rs373813159 0.00004
NM_006393.3(NEBL):c.1174G>A (p.Asp392Asn) rs1588767821
NM_006393.3(NEBL):c.1640G>A (p.Arg547Gln) rs747238199
NM_006393.3(NEBL):c.1790A>C (p.Lys597Thr)

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