ClinVar Miner

List of variants in gene DLL3, LOC130064419 studied for Inborn genetic diseases

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_203486.3(DLL3):c.1483C>T (p.Pro495Ser) rs201354924 0.00013
NM_203486.3(DLL3):c.1610T>C (p.Val537Ala) rs369266504 0.00013
NM_203486.3(DLL3):c.1498C>T (p.Leu500Phe) rs369634266 0.00007
NM_203486.3(DLL3):c.1525G>A (p.Ala509Thr) rs775548960 0.00002
NM_203486.3(DLL3):c.1532T>G (p.Leu511Trp) rs543714737 0.00001
NM_203486.3(DLL3):c.1516G>A (p.Ala506Thr) rs867628571
NM_203486.3(DLL3):c.1535T>A (p.Leu512Gln)
NM_203486.3(DLL3):c.1544T>A (p.Val515Glu) rs1218657006
NM_203486.3(DLL3):c.1603C>T (p.Pro535Ser) rs1416506841

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