ClinVar Miner

List of variants reported as likely benign for autoimmune disease by Illumina Laboratory Services, Illumina

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp) rs2066844 0.02936
NM_001370466.1(NOD2):c.-8-2340del rs5743265 0.00779
NM_001372051.1(CASP8):c.*71G>A rs41309822 0.00687
NM_001141945.3(ACTA2):c.-24+357C>T rs9658677 0.00433
NM_001372051.1(CASP8):c.*166G>C rs35474602 0.00369
NM_001141945.3(ACTA2):c.-24+409G>A rs56220100 0.00346
NM_001370466.1(NOD2):c.2026C>T (p.Arg676Cys) rs5743277 0.00340
NM_001372051.1(CASP8):c.339C>T (p.Ser113=) rs17860422 0.00309
NM_001370466.1(NOD2):c.2183C>T (p.Ala728Val) rs61747625 0.00307
NM_032977.4(CASP10):c.1216A>T (p.Ile406Leu) rs80358239 0.00307
NM_001372051.1(CASP8):c.655T>A (p.Ser219Thr) rs35976359 0.00241
NM_000138.5(FBN1):c.2420-8T>C rs140582 0.00163
NM_000043.6(FAS):c.580G>A (p.Glu194Lys) rs56006128 0.00138
NM_000043.6(FAS):c.*436C>T rs143388574 0.00132
NM_001372051.1(CASP8):c.*755G>A rs145519245 0.00106
NM_001370466.1(NOD2):c.-8-7T>A rs104895421 0.00092
NM_032977.4(CASP10):c.1502C>T (p.Pro501Leu) rs148939095 0.00091
NM_001370466.1(NOD2):c.2474A>G (p.Asn825Ser) rs104895467 0.00076
NM_001370466.1(NOD2):c.2506A>G (p.Met836Val) rs104895447 0.00073
NM_001370466.1(NOD2):c.2672C>A (p.Ala891Asp) rs104895452 0.00051
NM_001370466.1(NOD2):c.850C>T (p.Arg284Trp) rs104895427 0.00051
NM_000639.3(FASLG):c.174G>A (p.Pro58=) rs372411796 0.00034
NM_000043.6(FAS):c.*978C>T rs181225729 0.00032
NM_001370466.1(NOD2):c.1969C>T (p.Arg657Trp) rs5743276 0.00032
NM_000138.5(FBN1):c.8363C>T (p.Thr2788Met) rs143007898 0.00031
NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile) rs183306990 0.00030
NM_015474.4(SAMHD1):c.334G>A (p.Val112Ile) rs144353824 0.00029
NM_000138.5(FBN1):c.*2360C>G rs144404153 0.00024
NM_001370466.1(NOD2):c.2251G>A (p.Glu751Lys) rs104895443 0.00020
NM_001378687.1(ATP2C1):c.1146A>G (p.Gln382=) rs141822193 0.00016
NM_032977.4(CASP10):c.913A>G (p.Lys305Glu) rs149912574 0.00015
NM_000138.5(FBN1):c.5917+3A>G rs202158568 0.00014
NM_001370466.1(NOD2):c.2149C>T (p.Arg717Trp) rs140876663 0.00014
NM_001370466.1(NOD2):c.622C>T (p.Arg208Cys) rs104895422 0.00013
NM_000043.6(FAS):c.*70G>C rs80330323 0.00012
NM_015474.4(SAMHD1):c.1393C>A (p.Gln465Lys) rs142393072 0.00012
NM_015474.4(SAMHD1):c.697-11A>G rs200458478 0.00011
NM_001370466.1(NOD2):c.1608C>T (p.Tyr536=) rs111608429 0.00010
NM_001370466.1(NOD2):c.332G>A (p.Arg111Gln) rs104895456 0.00010
NM_000138.5(FBN1):c.3171C>T (p.Ser1057=) rs144400069 0.00008
NM_001370466.1(NOD2):c.1745T>G (p.Phe582Cys) rs777798807 0.00008
NM_000639.3(FASLG):c.278C>T (p.Ala93Val) rs758796005 0.00005
NM_001378687.1(ATP2C1):c.135T>C (p.Gly45=) rs753216597 0.00005
NM_000138.5(FBN1):c.5442C>T (p.Asn1814=) rs397515822 0.00004
NM_000639.3(FASLG):c.*32T>C rs775421228 0.00004
NM_000639.3(FASLG):c.-16T>C rs781373207 0.00004
NM_000639.3(FASLG):c.176C>T (p.Pro59Leu) rs375737004 0.00004
NM_001370466.1(NOD2):c.2284C>T (p.Leu762Phe) rs773758818 0.00004
NM_001370466.1(NOD2):c.2408G>A (p.Arg803Gln) rs770915641 0.00004
NM_001370466.1(NOD2):c.2736T>C (p.Ile912=) rs104895454 0.00004
NM_001370466.1(NOD2):c.653C>T (p.Thr218Met) rs148516118 0.00004
NM_015474.4(SAMHD1):c.993C>T (p.Tyr331=) rs775726168 0.00004
NM_032977.4(CASP10):c.1466G>A (p.Arg489Gln) rs535121774 0.00004
NM_000043.6(FAS):c.867A>C (p.Glu289Asp) rs377337130 0.00003
NM_001370466.1(NOD2):c.2465+1G>A rs373550987 0.00003
NM_001370466.1(NOD2):c.2465C>T (p.Ala822Val) rs104895486 0.00003
NM_001370466.1(NOD2):c.726G>A (p.Pro242=) rs369766454 0.00003
NM_032977.4(CASP10):c.1350G>T (p.Arg450=) rs370670949 0.00003
NM_032977.4(CASP10):c.879C>A (p.Ser293Arg) rs369897442 0.00003
NM_000138.5(FBN1):c.*1437G>A rs549498511 0.00001
NM_000138.5(FBN1):c.8227-3C>T rs200822151 0.00001
NM_001378687.1(ATP2C1):c.2232C>A (p.Pro744=) rs761270371 0.00001
NM_015474.4(SAMHD1):c.401G>A (p.Arg134Gln) rs767413799 0.00001
NM_032977.4(CASP10):c.721G>A (p.Gly241Ser) rs779013005 0.00001
NM_000138.5(FBN1):c.*1950dup rs535798341
NM_000138.5(FBN1):c.*960del rs527621676
NM_001141945.3(ACTA2):c.-24+414_-24+415del rs553556054
NM_001370466.1(NOD2):c.1753G>A (p.Ala585Thr) rs104895438
NM_001370466.1(NOD2):c.1753G>T (p.Ala585Ser) rs104895438
NM_001370466.1(NOD2):c.2641G>C (p.Gly881Arg) rs2066845
NM_001378687.1(ATP2C1):c.*350del rs200037424
NM_001378687.1(ATP2C1):c.*493TGTAA[1] rs141448272
NM_022162.3(NOD2):c.3019dup (p.Leu1007fs) rs2066847
NM_032977.3(CASP10):c.-285C>T rs530526445
NM_032977.4(CASP10):c.*2177del rs528903184
NM_032977.4(CASP10):c.*741del rs41506545
NM_032977.4(CASP10):c.923-12del rs367989998

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