ClinVar Miner

List of variants in gene NIPBL reported as likely benign by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 11
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HGVS dbSNP
NM_015384.4(NIPBL):c.42G>A (p.Ala14=) rs727504045
NM_015384.4(NIPBL):c.862C>A (p.Pro288Thr) rs546188623
NM_133433.3(NIPBL):c.1526C>G (p.Ser509Cys) rs80358352
NM_133433.3(NIPBL):c.1985A>G (p.Lys662Arg) rs140100861
NM_133433.3(NIPBL):c.198C>G (p.Val66=) rs146033170
NM_133433.3(NIPBL):c.2294G>A (p.Arg765Lys) rs185678374
NM_133433.3(NIPBL):c.2727T>C (p.Gly909=) rs148394805
NM_133433.3(NIPBL):c.4731A>G (p.Glu1577=) rs140021654
NM_133433.3(NIPBL):c.5101T>C (p.Ser1701Pro) rs139819353
NM_133433.3(NIPBL):c.6589+9A>T rs370709104
NM_133433.3(NIPBL):c.7463A>G (p.Asn2488Ser) rs794727675

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