ClinVar Miner

List of variants in gene combination LOC126862987, SEC23B reported as benign for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_006363.6(SEC23B):c.490G>T (p.Val164Leu) rs36023150 0.00602
NM_006363.6(SEC23B):c.367-17T>C rs77096313 0.00235
NM_006363.6(SEC23B):c.689+10C>T rs200020725 0.00220
NM_006363.6(SEC23B):c.604-4del
NM_006363.6(SEC23B):c.604-4dup rs750339397
NM_006363.6(SEC23B):c.604-5_604-4dup rs750339397
NM_006363.6(SEC23B):c.604-6_604-4del

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