ClinVar Miner

List of variants reported as likely benign for immune system disorder by Mendelics

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 151
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val) rs35947132 0.02791
NM_001018115.3(FANCD2):c.1868A>C (p.Gln623Pro) rs36070315 0.02463
NM_000204.5(CFI):c.1534+5G>T rs114013791 0.00951
NM_001710.6(CFB):c.1697A>C (p.Glu566Ala) rs45484591 0.00913
NM_000211.5(ITGB2):c.329-6C>T rs9983887 0.00876
NM_000211.5(ITGB2):c.1756C>T (p.Arg586Trp) rs5030672 0.00847
NM_001113378.2(FANCI):c.1813C>T (p.Leu605Phe) rs117125761 0.00708
NM_000061.3(BTK):c.141+11C>T rs138411530 0.00620
NM_000051.4(ATM):c.6088A>G (p.Ile2030Val) rs145847315 0.00517
NM_058216.3(RAD51C):c.572-17G>T rs193023469 0.00513
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361 0.00511
NM_001018115.3(FANCD2):c.1634A>G (p.Asn545Ser) rs145522204 0.00460
NM_001430.5(EPAS1):c.1121T>A (p.Phe374Tyr) rs150797491 0.00455
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val) rs1801673 0.00441
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser) rs2227922 0.00431
NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) rs72681869 0.00421
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser) rs28940272 0.00396
NM_000397.4(CYBB):c.1090G>C (p.Gly364Arg) rs141756032 0.00371
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg) rs1800368 0.00361
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr) rs61758784 0.00349
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365 0.00275
NM_000051.4(ATM):c.2362A>C (p.Ser788Arg) rs641252 0.00265
NM_007315.4(STAT1):c.796G>A (p.Val266Ile) rs41473544 0.00251
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro) rs41281202 0.00236
NM_000377.3(WAS):c.391G>A (p.Glu131Lys) rs146220228 0.00222
NM_005431.2(XRCC2):c.808T>G (p.Phe270Val) rs145085742 0.00205
NM_000051.4(ATM):c.8269-14A>T rs114320959 0.00195
NM_000051.4(ATM):c.1229T>C (p.Val410Ala) rs56128736 0.00186
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln) rs149318176 0.00178
NM_000051.4(ATM):c.609C>T (p.Asp203=) rs144709948 0.00166
NM_000051.4(ATM):c.7788+8G>T rs112775908 0.00165
NM_001372051.1(CASP8):c.803-2986C>G rs372086843 0.00157
NM_005431.2(XRCC2):c.40-16T>C rs41274991 0.00141
NM_000051.4(ATM):c.1066-6T>G rs201686625 0.00139
NM_000051.4(ATM):c.998C>T (p.Ser333Phe) rs28904919 0.00137
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg) rs140781259 0.00126
NM_000051.4(ATM):c.4473C>T (p.Phe1491=) rs4988008 0.00125
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser) rs142959373 0.00109
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406 0.00103
NM_000051.4(ATM):c.2125-48T>C rs371067508 0.00101
NM_005263.5(GFI1):c.-14A>C rs200972824 0.00101
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu) rs34231402 0.00096
NM_020937.4(FANCM):c.3296G>A (p.Arg1099His) rs139382267 0.00083
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770 0.00081
NM_000051.4(ATM):c.2096A>G (p.Glu699Gly) rs147934285 0.00077
NM_058216.3(RAD51C):c.146-8A>G rs201079501 0.00074
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu) rs2235006 0.00071
NM_000051.4(ATM):c.8592C>T (p.Tyr2864=) rs56025670 0.00051
NM_001018115.3(FANCD2):c.182C>T (p.Thr61Met) rs35110529 0.00045
NM_000051.4(ATM):c.3342G>A (p.Lys1114=) rs138393322 0.00044
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe) rs56009889 0.00035
NM_032444.4(SLX4):c.5248G>T (p.Ala1750Ser) rs771897046 0.00035
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233 0.00034
NM_000061.3(BTK):c.1252T>C (p.Tyr418His) rs144079566 0.00029
NM_000136.3(FANCC):c.166-7T>C rs369052148 0.00027
NM_001018115.3(FANCD2):c.1143C>T (p.Asp381=) rs376349741 0.00025
NM_058216.3(RAD51C):c.145+12T>G rs377297129 0.00024
NC_000001.11:g.172658929A>G rs895958192 0.00021
NC_000017.11:g.58692541G>A rs545213879 0.00021
NM_000051.4(ATM):c.1272T>C (p.Pro424=) rs35578748 0.00019
NM_005633.4(SOS1):c.1705C>G (p.Leu569Val) rs200786705 0.00019
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser) rs370559102 0.00017
NM_000135.4(FANCA):c.3348+7G>T rs185527578 0.00016
NM_001018115.3(FANCD2):c.1118C>T (p.Ser373Leu) rs372534421 0.00016
NM_032444.4(SLX4):c.5249C>T (p.Ala1750Val) rs745421287 0.00015
NM_018062.4(FANCL):c.1021-6T>C rs377052216 0.00014
NM_000051.4(ATM):c.8671+9T>G rs200190537 0.00013
NM_000051.4(ATM):c.5185G>C (p.Val1729Leu) rs3092907 0.00011
NM_020937.4(FANCM):c.53G>A (p.Arg18Gln) rs146609069 0.00011
NM_000051.4(ATM):c.2778A>G (p.Lys926=) rs372569168 0.00009
NM_000051.4(ATM):c.4167A>G (p.Thr1389=) rs183214437 0.00009
NM_000136.3(FANCC):c.554G>A (p.Arg185Gln) rs370346767 0.00009
NM_005263.5(GFI1):c.1250C>T (p.Thr417Met) rs777241871 0.00008
NM_000051.4(ATM):c.1010G>A (p.Arg337His) rs202160435 0.00006
NM_000051.4(ATM):c.5352C>T (p.Asn1784=) rs140641762 0.00006
NM_001083116.3(PRF1):c.632C>T (p.Ala211Val) rs368524364 0.00006
NM_005431.2(XRCC2):c.39+8C>G rs200363289 0.00006
NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu) rs141087784 0.00004
NM_005263.5(GFI1):c.1208A>G (p.Lys403Arg) rs28936382 0.00004
NM_019594.4(LRRC8A):c.1586C>T (p.Ala529Val) rs150164316 0.00004
NM_000051.4(ATM):c.4910-248T>C rs550591525 0.00003
NM_000051.4(ATM):c.2115C>T (p.Tyr705=) rs876659149 0.00002
NM_000051.4(ATM):c.4437-9C>T rs766003804 0.00002
NM_000051.4(ATM):c.8151+8T>C rs768069197 0.00002
NM_000051.4(ATM):c.8152-50T>C rs762648668 0.00002
NM_000136.3(FANCC):c.1161C>T (p.Cys387=) rs548998258 0.00002
NM_000431.4(MVK):c.1156G>A (p.Asp386Asn) rs104895380 0.00002
NM_019594.4(LRRC8A):c.203C>T (p.Ser68Leu) rs147311433 0.00002
NM_032638.5(GATA2):c.1017+8C>T rs200848213 0.00002
NM_058216.3(RAD51C):c.1026+43C>T rs750859385 0.00002
NM_058216.3(RAD51C):c.146-3C>T rs765143155 0.00002
NM_000051.4(ATM):c.2922-8T>A rs545892367 0.00001
NM_000051.4(ATM):c.3549T>C (p.Asn1183=) rs767377764 0.00001
NM_000051.4(ATM):c.5658T>C (p.Pro1886=) rs940182945 0.00001
NM_000051.4(ATM):c.902-22A>C rs766650801 0.00001
NM_000135.4(FANCA):c.3366C>T (p.His1122=) rs771815968 0.00001
NM_000136.3(FANCC):c.-87G>A rs1051113986 0.00001
NM_000136.3(FANCC):c.1155-29A>G rs759352163 0.00001
NM_000136.3(FANCC):c.1275C>G (p.Leu425=) rs767126985 0.00001
NM_000136.3(FANCC):c.1534-18C>T rs1289718209 0.00001
NM_000136.3(FANCC):c.166-5C>T rs753820400 0.00001
NM_000136.3(FANCC):c.166-9C>G rs372507085 0.00001
NM_000136.3(FANCC):c.668T>C (p.Val223Ala) rs751410815 0.00001
NM_002872.5(RAC2):c.364G>A (p.Asp122Asn) rs910521882 0.00001
NM_002872.5(RAC2):c.562G>A (p.Ala188Thr) rs758461304 0.00001
NM_020937.4(FANCM):c.4465G>A (p.Gly1489Arg) rs183784665 0.00001
NM_058216.3(RAD51C):c.141C>T (p.Ser47=) rs568912602 0.00001
NM_058216.3(RAD51C):c.145+11C>G rs1263551026 0.00001
NC_000011.10:g.108222768C>T rs1056339095
NC_000011.10:g.108222889A>T rs4987880
NM_000051.4(ATM):c.-15C>T rs1204830852
NM_000051.4(ATM):c.1236-2_1236-1del rs1591522638
NM_000051.4(ATM):c.1243A>T (p.Ile415Phe) rs1591522756
NM_000051.4(ATM):c.1245_1246insTTTTTT (p.Ile415_Ala416insPhePhe) rs1591522786
NM_000051.4(ATM):c.2376+9TTC[2] rs757318914
NM_000051.4(ATM):c.4109+8C>T rs1591656404
NM_000051.4(ATM):c.4236+7A>G rs1207435429
NM_000051.4(ATM):c.504C>T (p.Phe168=) rs1060504312
NM_000051.4(ATM):c.5306C>A (p.Thr1769Lys) rs1192250974
NM_000051.4(ATM):c.5309C>A (p.Ser1770Ter) rs121434223
NM_000051.4(ATM):c.5715A>G (p.Ser1905=) rs1057524579
NM_000051.4(ATM):c.6348-9A>T rs1591099349
NM_000051.4(ATM):c.6987C>G (p.Ser2329Arg) rs1591142078
NM_000051.4(ATM):c.7248C>T (p.Leu2416=) rs750513866
NM_000051.4(ATM):c.7789-8A>T rs1591177900
NM_000051.4(ATM):c.8313A>C (p.Thr2771=) rs1555135563
NM_000051.4(ATM):c.8893T>C (p.Leu2965=) rs1060504287
NM_000051.4(ATM):c.9112C>A (p.Gln3038Lys) rs1591387978
NM_000081.4(LYST):c.3025C>A (p.Gln1009Lys)
NM_000136.3(FANCC):c.-79+98A>G rs1408056644
NM_000136.3(FANCC):c.1329+10A>G rs977427150
NM_000136.3(FANCC):c.165+11G>C rs1588353233
NM_000136.3(FANCC):c.17T>C (p.Val6Ala) rs527289778
NM_000136.3(FANCC):c.687-5G>T rs767811745
NM_000136.3(FANCC):c.844-10_844-8del rs758617953
NM_000215.4(JAK3):c.2773C>A (p.Arg925Ser) rs149452625
NM_000631.5(NCF4):c.106A>C (p.Thr36Pro) rs200818199
NM_000639.3(FASLG):c.209C>G (p.Pro70Arg) rs1317103645
NM_001018115.3(FANCD2):c.2022-5C>T rs4019784
NM_001113378.2(FANCI):c.2636+11C>G rs1596307878
NM_001113378.2(FANCI):c.3652-70_3652-69del rs11321073
NM_001302746.1(FASLG):c.-187_-186GA[4] rs55853758
NM_001372051.1(CASP8):c.803-2881_803-2880insATCTATCAATGTTATGCCCACTGTGCTCTCCAGCTGTGGTCTG rs1559369386
NM_005263.5(GFI1):c.-100+686C>A rs1018517928
NM_032977.4(CASP10):c.1321G>A (p.Ala441Thr) rs760580885
NM_058216.3(RAD51C):c.115C>T (p.Leu39=) rs759149207
NM_058216.3(RAD51C):c.145+15T>C rs780116924
NM_058216.3(RAD51C):c.262C>T (p.Leu88=) rs786201383
NM_058216.3(RAD51C):c.461A>G (p.Glu154Gly) rs758847241
NM_152564.5(VPS13B):c.9331-2_9331-1del rs764288792
NM_152564.5(VPS13B):c.9337_9338del (p.Arg3113fs) rs754443525

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.