ClinVar Miner

List of variants in gene MASP2 reported as uncertain significance by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_006610.4(MASP2):c.352C>T (p.Arg118Cys)	rs147270785	0.00066
NM_006610.4(MASP2):c.1142C>T (p.Thr381Ile)	rs143981111	0.00062

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