ClinVar Miner

List of variants in gene NEXN reported by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_144573.4(NEXN):c.733G>A (p.Gly245Arg) rs1166698 0.15380
NM_144573.4(NEXN):c.1435C>T (p.Leu479Phe) rs181520023 0.00009
NM_144573.4(NEXN):c.856C>T (p.Arg286Trp) rs199917913 0.00009
NM_144573.4(NEXN):c.1996A>G (p.Thr666Ala) rs374000722 0.00007
NM_144573.4(NEXN):c.1595T>C (p.Ile532Thr) rs754656961 0.00004
NM_144573.4(NEXN):c.1053+1G>A rs397517843 0.00003
NM_144573.4(NEXN):c.1271C>T (p.Thr424Ile) rs200442502 0.00001
NM_144573.4(NEXN):c.1695C>G (p.Ile565Met) rs1167613126 0.00001
NM_144573.4(NEXN):c.2005C>T (p.Leu669Phe) rs774194309 0.00001
NM_144573.4(NEXN):c.917G>A (p.Arg306His) rs758055856 0.00001
NM_144573.4(NEXN):c.1073C>T (p.Pro358Leu) rs755252743
NM_144573.4(NEXN):c.1123G>T (p.Glu375Ter) rs1571150562
NM_144573.4(NEXN):c.1401AGA[2] (p.Glu470del) rs397517846
NM_144573.4(NEXN):c.1416AAG[1] (p.Arg475del) rs794729091
NM_144573.4(NEXN):c.1593A>G (p.Arg531=) rs1359392123
NM_144573.4(NEXN):c.1671GGA[2] (p.Glu561_Glu562del) rs397517848
NM_144573.4(NEXN):c.460A>G (p.Asn154Asp) rs1649751729

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