ClinVar Miner

List of variants in gene combination LOC130062586, MALT1 reported as likely benign for combined immunodeficiency due to MALT1 deficiency

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_006785.4(MALT1):c.54G>C (p.Thr18=) rs933129506 0.00011
NM_006785.4(MALT1):c.9G>T (p.Leu3=) rs373689542 0.00009
NM_006785.4(MALT1):c.132C>T (p.Leu44=) rs986681540 0.00001
NM_006785.4(MALT1):c.180G>A (p.Leu60=) rs1011849690 0.00001
NM_006785.4(MALT1):c.42G>A (p.Ser14=) rs1036222536 0.00001
NM_006785.4(MALT1):c.63G>C (p.Leu21=) rs2054163587 0.00001
NM_006785.4(MALT1):c.75G>A (p.Pro25=) rs1403424764 0.00001
NM_006785.4(MALT1):c.135G>C (p.Leu45=)
NM_006785.4(MALT1):c.192C>G (p.Arg64=)
NM_006785.4(MALT1):c.209+14C>G
NM_006785.4(MALT1):c.209+15G>A
NM_006785.4(MALT1):c.209+20A>G
NM_006785.4(MALT1):c.36G>T (p.Pro12=) rs1405670295
NM_006785.4(MALT1):c.42G>C (p.Ser14=)
NM_006785.4(MALT1):c.45C>T (p.Ala15=)
NM_006785.4(MALT1):c.60G>A (p.Pro20=) rs1330624120
NM_006785.4(MALT1):c.78C>T (p.Ala26=)
NM_006785.4(MALT1):c.87C>T (p.Thr29=)
NM_006785.4(MALT1):c.97C>T (p.Leu33=)

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