ClinVar Miner

List of variants in gene LOC130062586, MALT1 studied for Combined immunodeficiency due to MALT1 deficiency

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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_006785.4(MALT1):c.133C>G (p.Leu45Val) rs549192343 0.00016
NM_006785.4(MALT1):c.41C>G (p.Ser14Trp) rs941975162 0.00011
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.155G>A (p.Arg52Gln) rs893459894 0.00006
NM_006785.4(MALT1):c.92A>G (p.Asn31Ser) rs888829305 0.00004
NM_006785.4(MALT1):c.25C>G (p.Gln9Glu) rs1267560603 0.00002
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.202C>A (p.Arg68Ser) rs1020525635 0.00001
NM_006785.4(MALT1):c.209+4A>G rs1418604119 0.00001
NM_006785.4(MALT1):c.28G>A (p.Ala10Thr) rs1486051104 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.67G>A (p.Ala23Thr) rs994799429 0.00001
NM_006785.4(MALT1):c.71C>T (p.Pro24Leu) rs1172405267 0.00001
NM_006785.4(MALT1):c.75G>A (p.Pro25=) rs1403424764 0.00001
NM_006785.4(MALT1):c.106C>T (p.Pro36Ser) rs866625194
NM_006785.4(MALT1):c.111G>A (p.Leu37=)
NM_006785.4(MALT1):c.135G>C (p.Leu45=)
NM_006785.4(MALT1):c.136G>A (p.Asp46Asn) rs2144285784
NM_006785.4(MALT1):c.143C>G (p.Ala48Gly) rs1602263367
NM_006785.4(MALT1):c.190C>T (p.Arg64Cys)
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.209+8C>T
NM_006785.4(MALT1):c.23T>C (p.Leu8Pro)
NM_006785.4(MALT1):c.26A>G (p.Gln9Arg) rs2144285316
NM_006785.4(MALT1):c.36G>T (p.Pro12=) rs1405670295
NM_006785.4(MALT1):c.38C>T (p.Pro13Leu) rs2054162642
NM_006785.4(MALT1):c.41C>T (p.Ser14Leu)
NM_006785.4(MALT1):c.42G>C (p.Ser14=)
NM_006785.4(MALT1):c.45C>T (p.Ala15=)
NM_006785.4(MALT1):c.49C>T (p.Pro17Ser) rs2054163065
NM_006785.4(MALT1):c.53C>T (p.Thr18Met) rs1602263180
NM_006785.4(MALT1):c.56G>T (p.Gly19Val)
NM_006785.4(MALT1):c.60G>A (p.Pro20=) rs1330624120
NM_006785.4(MALT1):c.78C>T (p.Ala26=)
NM_006785.4(MALT1):c.82G>T (p.Ala28Ser)
NM_006785.4(MALT1):c.87C>T (p.Thr29=)
NM_006785.4(MALT1):c.88C>G (p.Leu30Val) rs2144285643
NM_006785.4(MALT1):c.97C>T (p.Leu33=)

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