ClinVar Miner

List of variants in gene LOC126860875, NEBL studied for Primary dilated cardiomyopathy

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_006393.3(NEBL):c.2057T>C (p.Val686Ala) rs74120667 0.00888
NM_006393.3(NEBL):c.2080C>T (p.Arg694Trp) rs114875104 0.00064
NM_006393.3(NEBL):c.2148+4T>C rs193163659 0.00035
NM_006393.3(NEBL):c.2101C>A (p.Pro701Thr) rs371551337 0.00016
NM_006393.3(NEBL):c.2139C>T (p.Asn713=) rs202147389 0.00008
NM_006393.3(NEBL):c.2092A>G (p.Ile698Val) rs565742208 0.00005
NM_006393.3(NEBL):c.2148+1G>A rs762179161 0.00003
NM_006393.3(NEBL):c.2104C>T (p.Pro702Ser) rs780795108 0.00002
NM_006393.3(NEBL):c.2108A>G (p.Glu703Gly) rs907637021 0.00002
NM_006393.3(NEBL):c.2148+19C>A rs769120353 0.00002
NM_006393.3(NEBL):c.2105C>T (p.Pro702Leu) rs1838860400 0.00001
NM_006393.3(NEBL):c.2056-15A>G
NM_006393.3(NEBL):c.2063A>T (p.Tyr688Phe)
NM_006393.3(NEBL):c.2066A>G (p.Lys689Arg) rs1838865198
NM_006393.3(NEBL):c.2070A>T (p.Gly690=)
NM_006393.3(NEBL):c.2080C>A (p.Arg694=)
NM_006393.3(NEBL):c.2110C>G (p.Leu704Val) rs751282061
NM_006393.3(NEBL):c.2122A>C (p.Lys708Gln)
NM_006393.3(NEBL):c.2147A>G (p.Asn716Ser)
NM_006393.3(NEBL):c.2148+19del
NM_006393.3(NEBL):c.2148+2T>A
NM_213569.2(NEBL):c.358-4751_358-4740del rs2130816665

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