ClinVar Miner

List of variants in gene NEBL studied for Cardiovascular phenotype

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_006393.3(NEBL):c.1051A>G (p.Met351Val) rs4025981 0.05741
NM_006393.3(NEBL):c.1132G>C (p.Asp378His) rs41277370 0.05503
NM_006393.3(NEBL):c.656C>A (p.Ala219Asp) rs2296610 0.01104
NM_006393.3(NEBL):c.2182A>G (p.Thr728Ala) rs71535732 0.00843
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.2149-5G>A rs71578956 0.00272
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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