ClinVar Miner

List of variants in gene DLL3, LOC130064417 studied for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 16
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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.618C>T (p.Pro206=) rs192624990 0.00153
NM_203486.3(DLL3):c.652+15C>T rs528327447 0.00078
NM_203486.3(DLL3):c.452G>A (p.Arg151His) rs768310008 0.00015
NM_203486.3(DLL3):c.564G>T (p.Thr188=) rs767676342 0.00015
NM_203486.3(DLL3):c.620G>A (p.Cys207Tyr) rs886054432 0.00005
NM_203486.3(DLL3):c.478C>T (p.Arg160Trp) rs376907733 0.00001
NM_203486.3(DLL3):c.621C>A (p.Cys207Ter) rs771875570 0.00001
NM_203486.3(DLL3):c.534C>A (p.Cys178Ter) rs1447189148
NM_203486.3(DLL3):c.546C>G (p.Ala182=) rs8106337
NM_203486.3(DLL3):c.583A>G (p.Ser195Gly) rs2079619248
NM_203486.3(DLL3):c.615C>T (p.Arg205=) rs780088167
NM_203486.3(DLL3):c.616C>G (p.Pro206Ala) rs376905666
NM_203486.3(DLL3):c.618del (p.Cys207fs) rs786200902

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