ClinVar Miner

List of variants in gene FADD reported as likely benign for FADD-related immunodeficiency

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Gene type:
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Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_003824.4(FADD):c.616G>A (p.Glu206Lys) rs61740746 0.00148
NM_003824.4(FADD):c.620C>T (p.Ala207Val) rs146934620 0.00109
NM_003824.4(FADD):c.78A>G (p.Leu26=) rs780381115 0.00006
NM_003824.4(FADD):c.187C>T (p.Leu63=) rs748403902 0.00004
NM_003824.4(FADD):c.186C>G (p.Leu62=) rs572559406 0.00003
NM_003824.4(FADD):c.198G>C (p.Leu66=) rs1300870983 0.00003
NM_003824.4(FADD):c.30G>T (p.Ser10=) rs376395925 0.00003
NM_003824.4(FADD):c.603C>T (p.Asp201=) rs1432662079 0.00003
NM_003824.4(FADD):c.81C>T (p.Cys27=) rs749690212 0.00003
NM_003824.4(FADD):c.174G>C (p.Gly58=) rs749488792 0.00002
NM_003824.4(FADD):c.223C>T (p.Leu75=) rs564798004 0.00002
NM_003824.4(FADD):c.243C>T (p.Asp81=) rs751522344 0.00002
NM_003824.4(FADD):c.615C>T (p.Ser205=) rs754602285 0.00002
NM_003824.4(FADD):c.6C>T (p.Asp2=) rs753098564 0.00002
NM_003824.4(FADD):c.111G>A (p.Glu37=) rs753468219 0.00001
NM_003824.4(FADD):c.132C>T (p.Asp44=) rs372468641 0.00001
NM_003824.4(FADD):c.211C>A (p.Arg71=) rs759209736 0.00001
NM_003824.4(FADD):c.21G>C (p.Leu7=) rs767021294 0.00001
NM_003824.4(FADD):c.287-11T>G rs757761952 0.00001
NM_003824.4(FADD):c.324G>A (p.Val108=) rs41269121 0.00001
NM_003824.4(FADD):c.333T>C (p.Asp111=) rs767584770 0.00001
NM_003824.4(FADD):c.384C>T (p.Ser128=) rs369418021 0.00001
NM_003824.4(FADD):c.447G>A (p.Lys149=) rs1461602350 0.00001
NM_003824.4(FADD):c.459G>A (p.Lys153=) rs762975795 0.00001
NM_003824.4(FADD):c.465C>T (p.Asn155=) rs762207823 0.00001
NM_003824.4(FADD):c.582C>T (p.Ser194=) rs767722548 0.00001
NM_003824.4(FADD):c.621G>A (p.Ala207=) rs779953779 0.00001
NM_003824.4(FADD):c.66G>A (p.Glu22=) rs770142233 0.00001
NM_003824.4(FADD):c.105G>A (p.Lys35=)
NM_003824.4(FADD):c.123C>T (p.Ser41=) rs944486253
NM_003824.4(FADD):c.129A>C (p.Leu43=)
NM_003824.4(FADD):c.12C>T (p.Phe4=)
NM_003824.4(FADD):c.138C>T (p.Phe46=) rs867550756
NM_003824.4(FADD):c.156G>A (p.Gln52=) rs758374449
NM_003824.4(FADD):c.171C>T (p.Pro57=)
NM_003824.4(FADD):c.186C>T (p.Leu62=) rs572559406
NM_003824.4(FADD):c.192C>T (p.Arg64=) rs546083176
NM_003824.4(FADD):c.210G>A (p.Leu70=) rs2497597503
NM_003824.4(FADD):c.225G>A (p.Leu75=) rs2497597548
NM_003824.4(FADD):c.234C>G (p.Arg78=) rs1014549290
NM_003824.4(FADD):c.287-18C>T rs778094656
NM_003824.4(FADD):c.287-8C>G rs1555063737
NM_003824.4(FADD):c.287-8C>T
NM_003824.4(FADD):c.297A>G (p.Ala99=)
NM_003824.4(FADD):c.306C>T (p.Asn102=)
NM_003824.4(FADD):c.343C>T (p.Leu115=) rs759700113
NM_003824.4(FADD):c.378C>T (p.Ile126=) rs61757382
NM_003824.4(FADD):c.399C>T (p.Tyr133=)
NM_003824.4(FADD):c.48G>A (p.Ser16=) rs2497596889
NM_003824.4(FADD):c.549C>T (p.Ala183=) rs2497604464
NM_003824.4(FADD):c.558C>T (p.Leu186=) rs1242307570
NM_003824.4(FADD):c.591A>G (p.Ser197=) rs2049461185
NM_003824.4(FADD):c.600A>G (p.Ser200=)
NM_003824.4(FADD):c.606A>G (p.Ala202=) rs1296046646
NM_003824.4(FADD):c.63C>T (p.Thr21=)
NM_003824.4(FADD):c.72G>A (p.Lys24=) rs2135897998
NM_003824.4(FADD):c.76C>T (p.Leu26=) rs2049437822
NM_003824.4(FADD):c.78A>T (p.Leu26=)
NM_003824.4(FADD):c.87G>A (p.Gly29=) rs774758911
NM_003824.4(FADD):c.9G>A (p.Pro3=) rs201376917

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