ClinVar Miner

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

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 48
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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.198G>C (p.Leu66=) rs1300870983 0.00004
NM_003824.4(FADD):c.81C>T (p.Cys27=) rs749690212 0.00004
NM_003824.4(FADD):c.186C>G (p.Leu62=) rs572559406 0.00003
NM_003824.4(FADD):c.174G>C (p.Gly58=) rs749488792 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.21G>C (p.Leu7=) rs767021294 0.00001
NM_003824.4(FADD):c.287-11T>G rs757761952 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.123C>T (p.Ser41=)
NM_003824.4(FADD):c.132C>T (p.Asp44=)
NM_003824.4(FADD):c.138C>T (p.Phe46=)
NM_003824.4(FADD):c.156G>A (p.Gln52=)
NM_003824.4(FADD):c.186C>T (p.Leu62=)
NM_003824.4(FADD):c.192C>T (p.Arg64=)
NM_003824.4(FADD):c.210G>A (p.Leu70=)
NM_003824.4(FADD):c.211C>A (p.Arg71=) rs759209736
NM_003824.4(FADD):c.223C>T (p.Leu75=)
NM_003824.4(FADD):c.225G>A (p.Leu75=)
NM_003824.4(FADD):c.234C>G (p.Arg78=) rs1014549290
NM_003824.4(FADD):c.243C>T (p.Asp81=)
NM_003824.4(FADD):c.287-18C>T
NM_003824.4(FADD):c.287-8C>G rs1555063737
NM_003824.4(FADD):c.30G>T (p.Ser10=)
NM_003824.4(FADD):c.333T>C (p.Asp111=)
NM_003824.4(FADD):c.343C>T (p.Leu115=)
NM_003824.4(FADD):c.378C>T (p.Ile126=) rs61757382
NM_003824.4(FADD):c.384C>T (p.Ser128=)
NM_003824.4(FADD):c.48G>A (p.Ser16=)
NM_003824.4(FADD):c.549C>T (p.Ala183=)
NM_003824.4(FADD):c.558C>T (p.Leu186=)
NM_003824.4(FADD):c.582C>T (p.Ser194=)
NM_003824.4(FADD):c.591A>G (p.Ser197=) rs2049461185
NM_003824.4(FADD):c.603C>T (p.Asp201=)
NM_003824.4(FADD):c.606A>G (p.Ala202=) rs1296046646
NM_003824.4(FADD):c.621G>A (p.Ala207=)
NM_003824.4(FADD):c.66G>A (p.Glu22=)
NM_003824.4(FADD):c.72G>A (p.Lys24=) rs2135897998
NM_003824.4(FADD):c.76C>T (p.Leu26=)
NM_003824.4(FADD):c.87G>A (p.Gly29=)
NM_003824.4(FADD):c.9G>A (p.Pro3=)

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