ClinVar Miner

List of variants in gene JAG1 reported as likely benign by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 14
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HGVS dbSNP
NM_000214.2(JAG1):c.1043G>A (p.Arg348Lys) rs200227737
NM_000214.2(JAG1):c.1120+10A>G rs201711717
NM_000214.3(JAG1):c.1389C>T (p.Ser463=) rs147229008
NM_000214.3(JAG1):c.1578C>T (p.Ile526=) rs1801139
NM_000214.3(JAG1):c.1655C>T (p.Pro552Leu) rs201785359
NM_000214.3(JAG1):c.1806C>T (p.His602=)
NM_000214.3(JAG1):c.2231G>A (p.Arg744Gln) rs147809756
NM_000214.3(JAG1):c.2301G>A (p.Thr767=) rs147634857
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln) rs145895196
NM_000214.3(JAG1):c.3296C>T (p.Pro1099Leu) rs200949270
NM_000214.3(JAG1):c.439+10G>A rs201371037
NM_000214.3(JAG1):c.526G>A (p.Val176Ile) rs199674138
NM_000214.3(JAG1):c.894T>C (p.Asn298=) rs149897344
NM_000214.3(JAG1):c.909T>C (p.His303=) rs139574260

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