ClinVar Miner

List of variants studied for FADD-related immunodeficiency by Invitae

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 106
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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.9G>T (p.Pro3=) rs201376917 0.00071
NM_003824.4(FADD):c.286+20G>A rs745305568 0.00028
NM_003824.4(FADD):c.93G>T (p.Val31=) rs41268213 0.00024
NM_003824.4(FADD):c.439A>G (p.Ile147Val) rs140822085 0.00012
NM_003824.4(FADD):c.452C>T (p.Thr151Ile) rs150178083 0.00011
NM_003824.4(FADD):c.313T>C (p.Cys105Arg) rs369869993 0.00006
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.307G>A (p.Val103Ile) rs200845739 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.31G>A (p.Val11Met) rs753665798 0.00002
NM_003824.4(FADD):c.466G>A (p.Ala156Thr) rs767771723 0.00002
NM_003824.4(FADD):c.52A>C (p.Ser18Arg) rs1408886315 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.248A>G (p.Glu83Gly) rs754171351 0.00001
NM_003824.4(FADD):c.287-11T>G rs757761952 0.00001
NM_003824.4(FADD):c.304A>C (p.Asn102His) rs1437990933 0.00001
NM_003824.4(FADD):c.324G>A (p.Val108=) rs41269121 0.00001
NM_003824.4(FADD):c.385A>G (p.Ile129Val) rs750867105 0.00001
NM_003824.4(FADD):c.419G>A (p.Arg140His) rs1371367785 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.547G>T (p.Ala183Ser) rs763073852 0.00001
NM_003824.4(FADD):c.551G>A (p.Arg184His) rs145623767 0.00001
NM_003824.4(FADD):c.8C>G (p.Pro3Arg) rs763339860 0.00001
NC_000011.9:g.(?_64973914)_(70052579_?)dup
NM_003824.4(FADD):c.109G>A (p.Glu37Lys)
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.139T>A (p.Ser47Thr)
NM_003824.4(FADD):c.152A>G (p.Glu51Gly) rs2049438451
NM_003824.4(FADD):c.156G>A (p.Gln52=)
NM_003824.4(FADD):c.168G>T (p.Glu56Asp) rs777501231
NM_003824.4(FADD):c.175C>T (p.His59Tyr)
NM_003824.4(FADD):c.186C>T (p.Leu62=)
NM_003824.4(FADD):c.192C>T (p.Arg64=)
NM_003824.4(FADD):c.206C>T (p.Ser69Phe)
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.241G>T (p.Asp81Tyr) rs2049439412
NM_003824.4(FADD):c.243C>T (p.Asp81=)
NM_003824.4(FADD):c.258G>A (p.Ala86=) rs2049439639
NM_003824.4(FADD):c.264C>A (p.Ala88=)
NM_003824.4(FADD):c.283G>A (p.Glu95Lys)
NM_003824.4(FADD):c.286+12G>C
NM_003824.4(FADD):c.286+15G>T
NM_003824.4(FADD):c.286+18_286+24del
NM_003824.4(FADD):c.286+8C>T
NM_003824.4(FADD):c.286+9G>C
NM_003824.4(FADD):c.287-18C>T
NM_003824.4(FADD):c.287-8C>G rs1555063737
NM_003824.4(FADD):c.306C>G (p.Asn102Lys) rs775250989
NM_003824.4(FADD):c.30G>T (p.Ser10=)
NM_003824.4(FADD):c.310A>G (p.Ile104Val) rs2135899812
NM_003824.4(FADD):c.316G>A (p.Asp106Asn)
NM_003824.4(FADD):c.330A>C (p.Lys110Asn) rs2135899832
NM_003824.4(FADD):c.333T>C (p.Asp111=)
NM_003824.4(FADD):c.334T>G (p.Trp112Gly)
NM_003824.4(FADD):c.343C>T (p.Leu115=)
NM_003824.4(FADD):c.349C>T (p.Arg117Cys)
NM_003824.4(FADD):c.350G>A (p.Arg117His) rs1392069885
NM_003824.4(FADD):c.359A>G (p.Lys120Arg)
NM_003824.4(FADD):c.378C>G (p.Ile126Met) rs61757382
NM_003824.4(FADD):c.378C>T (p.Ile126=) rs61757382
NM_003824.4(FADD):c.382A>G (p.Ser128Gly)
NM_003824.4(FADD):c.384C>T (p.Ser128=)
NM_003824.4(FADD):c.397T>C (p.Tyr133His) rs2049458420
NM_003824.4(FADD):c.416A>G (p.Glu139Gly)
NM_003824.4(FADD):c.475G>A (p.Ala159Thr) rs1555063819
NM_003824.4(FADD):c.48G>A (p.Ser16=)
NM_003824.4(FADD):c.508A>T (p.Met170Leu)
NM_003824.4(FADD):c.513C>A (p.Asn171Lys)
NM_003824.4(FADD):c.51C>G (p.Ser17Arg) rs1441791156
NM_003824.4(FADD):c.52A>G (p.Ser18Gly) rs1408886315
NM_003824.4(FADD):c.541C>G (p.Gln181Glu)
NM_003824.4(FADD):c.549C>T (p.Ala183=)
NM_003824.4(FADD):c.558C>T (p.Leu186=)
NM_003824.4(FADD):c.578T>C (p.Met193Thr)
NM_003824.4(FADD):c.582C>T (p.Ser194=)
NM_003824.4(FADD):c.584C>T (p.Pro195Leu) rs1194936880
NM_003824.4(FADD):c.591A>G (p.Ser197=) rs2049461185
NM_003824.4(FADD):c.603C>T (p.Asp201=)
NM_003824.4(FADD):c.604G>A (p.Ala202Thr) rs1313312609
NM_003824.4(FADD):c.606A>G (p.Ala202=) rs1296046646
NM_003824.4(FADD):c.617A>C (p.Glu206Ala) rs2135900115
NM_003824.4(FADD):c.621G>A (p.Ala207=)
NM_003824.4(FADD):c.623C>T (p.Ser208Phe) rs2135900136
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.89G>C (p.Arg30Pro) rs369187743
NM_003824.4(FADD):c.9G>A (p.Pro3=)

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