ClinVar Miner

List of variants in gene combination MASP2, TARDBP reported as likely benign for complement deficiency

Included ClinVar conditions (44):
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_006610.4(MASP2):c.1316G>A (p.Arg439His) rs12085877 0.02961
NM_007375.4(TARDBP):c.*2331A>G rs114897688 0.02160
NM_006610.4(MASP2):c.1617T>C (p.Asn539=) rs72550845 0.01301
NM_006610.4(MASP2):c.*184C>T rs115750484 0.00452
NM_006610.4(MASP2):c.1731A>C (p.Gln577His) rs144471433 0.00130

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