ClinVar Miner

List of variants in gene combination MASP2, TARDBP reported as uncertain significance for complement deficiency

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_006610.4(MASP2):c.1243G>A (p.Asp415Asn) rs61735593 0.00658
NM_006610.4(MASP2):c.*189G>A rs116311214 0.00581
NM_006610.4(MASP2):c.*219C>T rs775881603 0.00055
NM_006610.4(MASP2):c.1314C>T (p.Ala438=) rs199953319 0.00031
NM_006610.4(MASP2):c.1727C>T (p.Thr576Ile) rs202214079 0.00016
NM_006610.4(MASP2):c.*171A>C rs183998926 0.00014
NM_006610.4(MASP2):c.1470T>G (p.His490Gln) rs750359413 0.00004
NM_006610.4(MASP2):c.*212A>G rs987591296 0.00003
NM_006610.4(MASP2):c.*311T>C rs771262318 0.00003
NM_006610.4(MASP2):c.1574A>G (p.His525Arg) rs745359886 0.00003
NM_007375.4(TARDBP):c.*2123T>C rs1464055996 0.00003
NM_006610.4(MASP2):c.1972A>G (p.Met658Val) rs1643743988 0.00001
NM_006610.4(MASP2):c.*111C>T rs886045052
NM_006610.4(MASP2):c.*220A>G rs1643737115
NM_006610.4(MASP2):c.*282C>A rs375230404
NM_006610.4(MASP2):c.*64C>T rs1011130298
NM_006610.4(MASP2):c.1231G>A (p.Val411Met) rs367583731
NM_006610.4(MASP2):c.1254_1261delinsCCTCACACACTC (p.Trp418fs)
NM_006610.4(MASP2):c.1468C>T (p.His490Tyr) rs1643757459
NM_006610.4(MASP2):c.1590C>T (p.Asp530=) rs886045053
NM_006610.4(MASP2):c.1719G>C (p.Trp573Cys)
NM_006610.4(MASP2):c.1886G>C (p.Cys629Ser) rs1236065829
NM_006610.4(MASP2):c.1903G>A (p.Gly635Arg)

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