ClinVar Miner

List of variants in gene NEBL reported as uncertain significance for Cardiovascular phenotype

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Total variants: 8
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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.480+3A>G rs71578983 0.00336
NM_006393.3(NEBL):c.82-4A>G rs368268112 0.00021
NM_006393.3(NEBL):c.205A>G (p.Thr69Ala) rs780384504 0.00002
NM_006393.3(NEBL):c.901G>A (p.Gly301Ser) rs773469997 0.00001
NM_006393.3(NEBL):c.1775C>A (p.Ala592Glu) rs146275785
NM_006393.3(NEBL):c.791C>T (p.Ala264Val) rs548922223
NM_006393.3(NEBL):c.826A>G (p.Met276Val) rs1373986579

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