ClinVar Miner

List of variants reported as benign for combined immunodeficiency due to MALT1 deficiency by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_006785.4(MALT1):c.1400+20T>C rs28740963 0.24174
NM_006785.4(MALT1):c.649A>G (p.Arg217Gly) rs74847855 0.02743
NM_006785.4(MALT1):c.1299A>T (p.Pro433=) rs35575273 0.00785
NM_006785.4(MALT1):c.1223-20_1223-17del rs558928879 0.00553
NM_006785.4(MALT1):c.1401-16C>T rs35049034 0.00432
NM_006785.4(MALT1):c.649+18C>T rs201632195 0.00146
NM_006785.4(MALT1):c.1336C>T (p.Leu446=) rs529740893 0.00033
NM_006785.4(MALT1):c.1980A>G (p.Ser660=) rs143922859 0.00011
NM_006785.4(MALT1):c.1020G>A (p.Ala340=) rs200131227 0.00006
NM_006785.4(MALT1):c.986-4A>G rs371210384 0.00004
NM_006785.4(MALT1):c.1019-6del rs760010868
NM_006785.4(MALT1):c.1019-6dup
NM_006785.4(MALT1):c.1476-4dup
NM_006785.4(MALT1):c.1603+13del
NM_006785.4(MALT1):c.1753+21dup rs759888145
NM_006785.4(MALT1):c.1912-5del rs199915155
NM_006785.4(MALT1):c.1912-5dup rs199915155
NM_006785.4(MALT1):c.1912-6_1912-5dup rs199915155
NM_006785.4(MALT1):c.2354C>T (p.Ala785Val) rs543467796
NM_006785.4(MALT1):c.498+10dup

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