ClinVar Miner

List of variants in gene combination DLL3, LOC130064417 reported as benign for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_203486.3(DLL3):c.410-40C>T rs2278440 0.27956
NM_203486.3(DLL3):c.425T>A (p.Leu142Gln) rs55741253 0.06752
NM_203486.3(DLL3):c.543T>C (p.Pro181=) rs115194365 0.00553
NM_203486.3(DLL3):c.546C>G (p.Ala182=) rs8106337

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