ClinVar Miner

List of variants in gene combination DLL1, LOC126859913 reported as uncertain significance for neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures

Included ClinVar conditions (1):
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_005618.4(DLL1):c.2075C>T (p.Pro692Leu) rs773530345 0.00004
NM_005618.4(DLL1):c.1964G>A (p.Arg655Lys) rs2114957465
NM_005618.4(DLL1):c.1988C>T (p.Thr663Ile)
NM_005618.4(DLL1):c.2131T>C (p.Ser711Pro)
NM_005618.4(DLL1):c.2134G>T (p.Glu712Ter)

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