ClinVar Miner

List of variants in gene DCLRE1C studied for Severe combined immunodeficiency due to DCLRE1C deficiency; Histiocytic medullary reticulosis

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Gene type:
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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_001033855.3(DCLRE1C):c.512C>G (p.Pro171Arg) rs35441642 0.09351
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg) rs41297018 0.00940
NM_001033855.3(DCLRE1C):c.1893C>T (p.Pro631=) rs41300676 0.00441
NM_001033855.3(DCLRE1C):c.985T>A (p.Leu329Met) rs41299658 0.00071
NM_001033855.3(DCLRE1C):c.1733A>G (p.Tyr578Cys) rs778823769 0.00033
NM_001033855.3(DCLRE1C):c.1385A>T (p.Glu462Val) rs115250914 0.00015
NM_001033855.3(DCLRE1C):c.212C>T (p.Thr71Met) rs147013097 0.00015
NM_001033855.3(DCLRE1C):c.1990C>T (p.Arg664Ter) rs200693133 0.00011
NM_001033855.3(DCLRE1C):c.1627A>G (p.Ile543Val) rs777250271 0.00006
NM_001033855.3(DCLRE1C):c.241C>T (p.Arg81Ter) rs121908156 0.00004
NM_001033855.3(DCLRE1C):c.380A>G (p.Asn127Ser) rs752558172 0.00004
NM_001033855.3(DCLRE1C):c.109+1G>T rs143144732 0.00003
NM_001033855.3(DCLRE1C):c.1556C>T (p.Pro519Leu) rs542791233 0.00003
NM_001033855.3(DCLRE1C):c.1784dup (p.Ile596fs) rs1190921257 0.00003
NM_001033855.3(DCLRE1C):c.247-2A>G rs2131027694 0.00003
NM_001033855.3(DCLRE1C):c.265A>G (p.Thr89Ala) rs756366535 0.00003
NM_001033855.3(DCLRE1C):c.1709T>G (p.Ile570Ser) rs769187936 0.00002
NM_001033855.3(DCLRE1C):c.103C>G (p.His35Asp) rs121908159 0.00001
NM_001033855.3(DCLRE1C):c.465-2A>C rs1839625956 0.00001
NM_001033855.3(DCLRE1C):c.1238del (p.Pro413fs) rs2491636150
NM_001033855.3(DCLRE1C):c.1774del (p.Glu592fs)
NM_001033855.3(DCLRE1C):c.1789del (p.Cys597fs) rs759377639
NM_001033855.3(DCLRE1C):c.1903dup (p.Ser635fs) rs760288938
NM_001033855.3(DCLRE1C):c.306+2T>A rs2131026813
NM_001033855.3(DCLRE1C):c.329T>G (p.Leu110Arg)
NM_001033855.3(DCLRE1C):c.353G>T (p.Gly118Val) rs1839956628
NM_001033855.3(DCLRE1C):c.362T>C (p.Met121Thr) rs747171418
NM_001033855.3(DCLRE1C):c.368T>A (p.Leu123Ter)
NM_001033855.3(DCLRE1C):c.571C>T (p.Arg191Ter) rs752655158
NM_001033855.3(DCLRE1C):c.640dup (p.Tyr214fs)
NM_001033855.3(DCLRE1C):c.678+5G>A rs750695358
NM_001033855.3(DCLRE1C):c.869C>T (p.Ser290Phe)
NM_001033855.3(DCLRE1C):c.95C>T (p.Ser32Phe) rs969498121

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