ClinVar Miner

List of variants in gene CREB3L3 studied for hypertriglyceridemia

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_032607.3(CREB3L3):c.891-14C>T rs192623406 0.00180
NM_032607.3(CREB3L3):c.313G>A (p.Gly105Arg) rs77002741 0.00176
NM_032607.3(CREB3L3):c.544G>A (p.Asp182Asn) rs140312652 0.00117
NM_032607.3(CREB3L3):c.732dup (p.Lys245fs) rs780374391 0.00038
NM_032607.3(CREB3L3):c.718G>A (p.Glu240Lys) rs778428363 0.00002
NM_032607.3(CREB3L3):c.138G>A (p.Trp46Ter)
NM_032607.3(CREB3L3):c.363del (p.Cys123fs) rs2145120326
NM_032607.3(CREB3L3):c.739dup (p.Ile247fs) rs1167386243
NM_032607.3(CREB3L3):c.[732dup;739A>T]

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