ClinVar Miner

List of variants in gene IGSF1 reported as benign by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001555.5(IGSF1):c.93A>G (p.Ser31=) rs4495600 0.99369
NM_001555.5(IGSF1):c.114A>G (p.Pro38=) rs5930458 0.98470
NM_001555.5(IGSF1):c.948G>A (p.Val316=) rs5932877 0.91610
NM_001555.5(IGSF1):c.1347A>G (p.Glu449=) rs1128617 0.48301
NM_001555.5(IGSF1):c.2556T>C (p.Tyr852=) rs4830219 0.36154

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