ClinVar Miner

List of variants in gene DCLRE1C reported as likely pathogenic by Labcorp Genetics (formerly Invitae), Labcorp

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Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_001033855.3(DCLRE1C):c.247-2A>G rs2131027694 0.00003
NM_001033855.3(DCLRE1C):c.162-1G>T rs149090997 0.00001
NM_001033855.3(DCLRE1C):c.211A>C (p.Thr71Pro) rs1437892966 0.00001
NM_001033855.3(DCLRE1C):c.465-2A>C rs1839625956 0.00001
NC_000010.10:g.(?_14969995)_(14974974_?)dup
NC_000010.10:g.(?_14978517)_(14981888_?)dup
NM_001033855.3(DCLRE1C):c.1061+1G>A rs2491844147
NM_001033855.3(DCLRE1C):c.162-2A>C rs2492301974
NM_001033855.3(DCLRE1C):c.1A>G (p.Met1Val)
NM_001033855.3(DCLRE1C):c.306+2T>A rs2131026813
NM_001033855.3(DCLRE1C):c.306+2T>C rs2131026813
NM_001033855.3(DCLRE1C):c.335C>T (p.Pro112Leu) rs2492077143
NM_001033855.3(DCLRE1C):c.363-2A>G rs2130956855
NM_001033855.3(DCLRE1C):c.426_464+123del rs2492034634
NM_001033855.3(DCLRE1C):c.465-1G>A rs2130944445
NM_001033855.3(DCLRE1C):c.465-1G>C rs2130944445
NM_001033855.3(DCLRE1C):c.465-2A>G rs1839625956
NM_001033855.3(DCLRE1C):c.492_504delinsAGATACTATGTTG (p.Thr167_Phe168delinsMetLeu) rs1589064324
NM_001033855.3(DCLRE1C):c.537+1G>T rs2492028268
NM_001033855.3(DCLRE1C):c.538-1G>C rs2492025655
NM_001033855.3(DCLRE1C):c.678+2T>G rs1215422400
NM_001033855.3(DCLRE1C):c.679-1G>T rs2130918080
NM_001033855.3(DCLRE1C):c.780+1G>C rs1839255008
NM_001033855.3(DCLRE1C):c.781-1G>A rs2491948431
NM_001033855.3(DCLRE1C):c.917+1G>A rs1564418254
NM_001033855.3(DCLRE1C):c.939_972+715del rs2491904960
NM_001033855.3(DCLRE1C):c.95C>G (p.Ser32Cys) rs969498121

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